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1. The thermal and stored heat energy driving a Stirling engine for power generation

Author

Elardus Erasmus Duvenage and Trudy Sutherland

Subjects
photovoltaic, solar, stored heat energy, stirling engine, matlab, battery backup, Renewable energy sources, TJ807-830
Abstract

South Africa’s national power grid is currently in dire straits. The lack of a dependable power supplier and rising electricity costs force the public and businesses to look for alternatives to meet their energy needs. These alternatives are costly to implement and beyond the financial reach of most South Africans. The most common alternative energy source is solar photovoltaic systems with large battery banks to survive Eskom's long, regular load-shedding schedules. This research aims to design and simulate a combined solar-thermal and stored heat energy-powered Stirling engine for power generation. The output of the research simulation was compared to a standard photovoltaic installation of similar power output. The results for this paper were generated from the simulation software package MATLAB. Such a system must have a lower capital cost to compete with solar photovoltaic systems with battery backup. The Stirling system was found to be cheaper than the deep-cycle gel system and about 11% cheaper than the PV system using lithium iron phosphate.

Published
2023
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2. Data on the optimisation of a solid phase extraction method for fractionating estrogen metabolites from small urine volumes

Author

Carien L. van der Berg, Gerda Venter, Francois H. van der Westhuizen, and Elardus Erasmus

Subjects
Computer applications to medicine. Medical informatics, R858-859.7, Science (General), Q1-390
Abstract

Certain estrogen metabolites have been implicated in the pathophysiology of breast cancer. Moreover, the estrogen metabolite profiles of healthy women and those with (a high risk of) breast cancer differ significantly. The development of an analytical method to determine the relative levels of all the estrogen biotransformation products has been described in van der Berg et al. [1]. An improvement on previously developed methods was the ability to also detect molecules such as sulphate and glucuronide conjugates as well as progesterone, estradiol precursors, and metabolites from the 16-hydroxylation metabolic pathway of estrogens simultaneously with all other estrogen metabolites. The data presented here describe the optimisation of a solid phase extraction method with different fractionation steps for LC-MS/MS analysis of 27 estrogen-related metabolites from small urine volumes. Conditions that were optimised include the elution and washing solvent concentration, the urine, loading, washing, and elution volumes, as well as pH. All raw data used to construct the bar graphs presented in this article are included in the supplementary data file. The data indicated that fractionation was necessary in order to elute estrogen metabolites with different chemical properties at different eluate compositions. Only one of the fractions (containing the less water-soluble metabolites) underwent derivatisation before LC-MS/MS analysis. Keywords: Estrogen metabolism, Solid phase extraction, LC-MS/MS, Method optimisation

Published
2020
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3. Biotransformation profiles from a cohort of chronic fatigue women in response to a hepatic detoxification challenge.

Author

Elardus Erasmus, Francois E Steffens, Mari van Reenen, B Chris Vorster, and Carolus J Reinecke

Subjects
Medicine, Science
Abstract

Chronic fatigue, in its various manifestations, frequently co-occur with pain, sleep disturbances and depression and is a non-communicable condition which is rapidly becoming endemic worldwide. However, it is handicapped by a lack of objective definitions and diagnostic measures. This has prompted the World Health Organization to develop an international instrument whose intended purpose is to improve quality of life (QOL), with energy and fatigue as one domain of focus. To complement this objective, the interface between detoxification, the exposome, and xenobiotic-sensing by nuclear receptors that mediate induction of biotransformation-linked genes, is stimulating renewed attention to a rational development of strategies to identify the metabolic profiles in complex multifactorial conditions like fatigue. Here we present results from a seven-year study of a cohort of 576 female patients suffering from low to high levels of chronic fatigue, in which phase I and phase II biotransformation was assessed. The biotransformation profiles used were based on hepatic detoxification challenge tests through oral caffeine, acetaminophen and acetylsalicylic acid ingestion coupled with oxidative stress analyses. The interventions indicated normal phase I but increased phase II glucuronidation and glycination conjugation. Complementarity was indicated between a fatigue scale, medical symptoms and associated energy-related parameters by application of Chi-square Automatic Interaction Detector (CHAID) analysis. The presented study provides a cluster of data from which we propose that multidisciplinary inputs from the combination of a fatigue scale, medical symptoms and biotransformation profiles provide the rationale for the development of a comprehensive laboratory instrument for improved diagnostics and personalized interventions in patients with chronic fatigue with a view to improving their QOL.

Published
2019
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4. Establishing an economical and widely accessible donation after circulatory death animal abattoir model for lung research using ex vivo lung perfusion

Author

Zhang Long Zhang, Niels Moeslund, Michiel Andy Hu, Roland Hoffmann, Leonie Harmina Venema, Caroline Van De Wauwer, Wim Timens, Toshihiro Okamoto, Erik Alfons Maria Verschuuren, Henri Gerrit Derk Leuvenink, Hans Eiskjaer, Michiel Elardus Erasmus, Guided Treatment in Optimal Selected Cancer Patients (GUTS), Groningen Research Institute for Asthma and COPD (GRIAC), Groningen Institute for Organ Transplantation (GIOT), and Cardiovascular Centre (CVC)

Subjects
sheep, abattoir, research model, Biomedical Engineering, Medicine (miscellaneous), Bioengineering, ex vivo lung perfusion, General Medicine, Biomaterials, Perfusion, low flow perfusion, RECEPTORS, Disease Models, Animal, ovine, Adenosine Triphosphate, Animals, animal, Lung, Abattoirs, Lung Transplantation
Abstract

Ex vivo lung perfusion (EVLP), is a platform that allows simultaneous testing and treatment of the lungs. However, use of EVLP is costly and requires access to lab animals and accompanying facilities. To increase the use of EVLP for research, we developed a method to perform EVLP using abattoir procured lungs. Furthermore, we were also able to significantly decrease costs.Six pair of lungs were procured from abattoir sheep. The lungs were then flushed and stored in ice for 3 h. A low-flow (20% of cardiac output) approach, a tidal volume of 6 ml/kg bodyweight and total perfusion time of 3 h were chosen. Perfusion fluids and circuits were self-made. Lung biopsies, perfusate collection, respiratory values, circulatory pressures were recorded and hourly blood gas analyses were performed.Mean pOSheep lungs, acquired from an abattoir, can be ex vivo perfused under similar conditions as lab animal lungs with similar results regarding e.g., oxygenation and ATP restoration. Furthermore, costs can be significantly reduced by making use of this abattoir model. By increasing accessibility and lowering costs for experiments using lung perfusion, more results may be achieved in the field of lung diseases.

Published
2022

5. High Oxygenation During Normothermic Regional Perfusion After Circulatory Death Is Beneficial on Donor Cardiac Function in a Porcine Model

Author

Niels Moeslund, Zhang Long Zhang, Lars Bo Ilkjaer, Pia Ryhammer, Christine Cramer, Johan Palmfeldt, Michael Pedersen, Michiel Elardus Erasmus, Steven Tsui, Hans Eiskjaer, Cardiovascular Centre (CVC), and Groningen Institute for Organ Transplantation (GIOT)

Subjects
Transplantation, OUTCOMES, ARREST, Swine, HEART-TRANSPLANTATION, Organ Preservation/methods, Organ Preservation, Tissue Donors, Perfusion, Death, Oxygen, CARDIOPULMONARY-RESUSCITATION, Perfusion/methods, Heart Transplantation, Animals, Humans, DONATION, Heart Transplantation/adverse effects
Abstract

BACKGROUND: Thoracoabdominal normothermic regional perfusion (NRP) is a new method for in situ reperfusion and reanimation of potential donor organs in donation after circulatory death by reperfusion of the thoracic and abdominal organs with oxygenated blood. We investigated effects of high oxygenation (HOX) versus low oxygenation (LOX) during NRP on donor heart function in a porcine model.METHODS: Pigs (80 kg) underwent a 15-min anoxic cardiac arrest followed by cardiac reanimation on NRP using a heart-lung bypass machine with subsequent assessment 180 minutes post-NRP. The animals were randomized to HOX (FiO2 1.0) or LOX (FiO2 0.21 increased to 0.40 during NRP). Hemodynamic data were obtained by invasive blood pressure and biventricular pressure-volume measurements. Blood gases, biomarkers of inflammation, and oxidative stress were measured.RESULTS: Eight of 9 animals in the HOX group and 7 of 10 in the LOX group were successfully weaned from NRP. Right ventricular end-systole elastance was significantly improved in the HOX group compared with the LOX group, whereas left ventricular end-systole elastance was preserved at baseline levels. Post-NRP cardiac output, mean arterial, central venous, and pulmonary capillary wedge pressure were all comparable to baseline. Creatinine kinase-MB increased more in the LOX group than the HOX group, whereas proinflammatory cytokines increased more in the HOX group than the LOX group. No difference was found in oxidative stress between groups.CONCLUSIONS: All hearts weaned from NRP showed acceptable hemodynamic function for transplantation. Hearts exposed to LOX showed more myocardial damage and showed poorer contractile performance than hearts reperfused with high oxygen.

Published
2022

6. Health Status Is Affected, and Phase I/II Biotransformation Activity Altered in Young Women Using Oral Contraceptives Containing Drospirenone/Ethinyl Estradiol

Author

Elardus Erasmus, Carien L. van der Berg, Gerda Venter, and Francois H. van der Westhuizen

Subjects
medicine.medical_specialty, Health, Toxicology and Mutagenesis, health status, medicine.disease_cause, Ethinyl Estradiol, Article, Pharmacokinetics, Biotransformation, Internal medicine, Medicine, Humans, oxidative stress, Adverse effect, oral contraceptives, business.industry, Public Health, Environmental and Occupational Health, CYP1A2, Drospirenone, Contraceptives, Oral, Combined, Endocrinology, Drospirenone/Ethinyl Estradiol, Androstenes, Female, fatigue, biotransformation, business, Oxidative stress, Hormone, medicine.drug
Abstract

Combined oral contraceptive (COC) use has been associated with various adverse effects. Formulations containing drospirenone (DRSP) and ethinyl estradiol (EE) are generally regarded as milder COCs. Whether long term use of these pills indeed has a low health risk remains questionable. COC use may affect the biotransformation balance by increasing the toxic load or by interfering with the pharmacokinetics of other drugs. This may negatively impact overall health via the production of toxic biotransformation metabolites and induction of oxidative stress. Although individual enzymes involved in biotransformation are known to be regulated by COCs, the effect of COC use on the overall liver biotransformation efficiency has not been reported. Here, we evaluated the general subjective health status and overall liver biotransformation efficiency of healthy young women who were either long term chronic users of COCs containing DRSP/EE, or who were not using any hormonal products. COC users suffered from moderate to severe fatigue and reported more health-related symptoms. Furthermore, phase I (CYP1A2) activity was reduced whereas phase II conjugation reactions (glucuronide conjugation and glycine conjugation) were increased in COC users. Finally, serum peroxide levels were markedly elevated and antioxidant capacity of plasma was reduced in COC users. COCs containing DRSP/EE may, therefore, adversely affect health status and disturb the balance between phase I and II biotransformation reactions. These effects may be mediated by oxidative stress.

Published
2021

7. A laboratory approach for characterizing chronic fatigue: what does metabolomics tell us?

Author

Shayne Mason, Elardus Erasmus, Mari van Reenen, Francois E. Steffens, Carolus J. Reinecke, B. Chris Vorster, 10066136 - Erasmus, Elardus, 21487855 - Mason, Shayne William, 12791733 - Van Reenen, Mari, 22713077 - Vorster, Barend Christiaan, and 10055037 - Reinecke, Carolus Johannes

Subjects
Adult, medicine.medical_specialty, Magnetic Resonance Spectroscopy, Multivariate analysis, Endocrinology, Diabetes and Metabolism, Clinical Biochemistry, 01 natural sciences, Biochemistry, World health, 03 medical and health sciences, Phase II biotransformation, Metabolomics, Physical medicine and rehabilitation, Detoxification challenge test, medicine, Humans, In patient, Fatigue, 030304 developmental biology, 0303 health sciences, Fatigue Syndrome, Chronic, business.industry, Piper fatigue scale, 010401 analytical chemistry, Chronic fatigue, 1H-NMR metabolomics, Middle Aged, 0104 chemical sciences, Potential biomarkers, Multivariate Analysis, Quality of Life, Female, Functional status, business, Biomarkers
Abstract

Introduction Manifestations of fatigue range from chronic fatigue up to a severe syndrome and myalgic encephalomyelitis. Fatigue grossly affects the functional status and quality of life of affected individuals, prompting the World Health Organization to recognize it as a chronic non-communicable condition. Objectives Here, we explore the potential of urinary metabolite information to complement clinical criteria of fatigue, providing an avenue towards an objective measure of fatigue in patients presenting with the full spectrum of fatigue levels. Methods The experimental group consisted of 578 chronic fatigue female patients. The measurement design was composed of (1) existing clinical fatigue scales, (2) a hepatic detoxification challenge test, and (3) untargeted proton nuclear magnetic resonance (1H-NMR) procedure to generate metabolomics data. Data analysed via an in-house Matlab script that combines functions from a Statistics and a PLS Toolbox. Results Multivariate analysis of the original 459 profiled 1H-NMR bins for the low (control) and high (patient) fatigue groups indicated complete separation following the detoxification experimental challenge. Important bins identified from the 1H-NMR spectra provided quantitative metabolite information on the detoxification challenge for the fatigue groups. Conclusions Untargeted 1H-NMR metabolomics proved its applicability as a global profiling tool to reveal the impact of toxicological interventions in chronic fatigue patients. No clear potential biomarker emerged from this study, but the quantitative profile of the phase II biotransformation products provide a practical visible effect directing to up-regulation of crucial phase II enzyme systems in the high fatigue group in response to a high xenobiotic-load

Published
2019

8. MtDNA population variation in Myalgic encephalomyelitis/Chronic fatigue syndrome in two populations: a study of mildly deleterious variants

Author

Victoria Strassheim, Joanna L. Elson, Cara Tomas, Marianne Venter, Julia L. Newton, Neil Howell, Ilse S. Pienaar, Elardus Erasmus, Francois H. van der Westhuizen, Wan-Fai Ng, 20196946 - Venter, Marianne, 10213503 - Van der Westhuizen, Francois Hendrikus, 24952338 - Elson, Joanna L., and 10066136 - Erasmus, Elardus

Subjects
musculoskeletal diseases, 0301 basic medicine, Cimicifuga, Mitochondrial DNA, Genotype, Mitochondrial disease, Encephalomyelitis, Population, lcsh:Medicine, DNA, Mitochondrial, Article, South Africa, 03 medical and health sciences, 0302 clinical medicine, Gene Frequency, Population Groups, Chronic fatigue syndrome, medicine, Humans, Gene Regulatory Networks, lcsh:Science, education, Allele frequency, Genetic association study, education.field_of_study, Fatigue Syndrome, Chronic, Polymorphism, Genetic, Multidisciplinary, business.industry, lcsh:R, Haplotype, virus diseases, Rare variants, medicine.disease, United Kingdom, Phenotype, 030104 developmental biology, Haplotypes, Mutation, Immunology, Disease Progression, lcsh:Q, business, 030217 neurology & neurosurgery
Abstract

Myalgic Encephalomyelitis (ME), also known as Chronic Fatigue Syndrome (CFS) is a debilitating condition. There is growing interest in a possible etiologic or pathogenic role of mitochondrial dysfunction and mitochondrial DNA (mtDNA) variation in ME/CFS. Supporting such a link, fatigue is common and often severe in patients with mitochondrial disease. We investigate the role of mtDNA variation in ME/CFS. No proven pathogenic mtDNA mutations were found. We then investigated population variation. Two cohorts were analysed, one from the UK (n = 89 moderately affected; 29 severely affected) and the other from South Africa (n = 143 moderately affected). For both cohorts, ME/CFS patients had an excess of individuals without a mildly deleterious population variant. The differences in population variation might reflect a mechanism important to the pathophysiology of ME/CFS.

Published
2019

9. Biotransformation profiles from a cohort of chronic fatigue women in response to a hepatic detoxification challenge

Author

B. Chris Vorster, Francois E. Steffens, Mari van Reenen, Elardus Erasmus, Carolus J. Reinecke, 10066136 - Erasmus, Elardus, 10055037 - Reinecke, Carolus Johannes, 12791733 - Van Reenen, Mari, and 22713077 - Vorster, Barend Christiaan

Subjects
0301 basic medicine, Physiology, Psychological intervention, Urine, Pathology and Laboratory Medicine, Toxicology, Biochemistry, Material Fatigue, Cohort Studies, 0302 clinical medicine, Biotransformation, Materials Physics, Medicine and Health Sciences, Medicine, Prospective Studies, Amino Acids, Fatigue, Aged, 80 and over, Microscopy, Multidisciplinary, Fatigue Syndrome, Chronic, Organic Compounds, Physics, Classical Mechanics, Light Microscopy, Middle Aged, Body Fluids, Chemistry, Liver, 030220 oncology & carcinogenesis, Cohort, Physical Sciences, Metabolic Pathways, Anatomy, Detoxification, medicine.drug, Research Article, Adult, Exposome, medicine.medical_specialty, Adolescent, Fluorescence Recovery after Photobleaching, Science, Materials Science, Glycine, Research and Analysis Methods, World health, 03 medical and health sciences, Young Adult, Signs and Symptoms, Alkaloids, Diagnostic Medicine, Caffeine, Humans, Xenobiotic Metabolism, Intensive care medicine, Aged, Damage Mechanics, business.industry, Organic Chemistry, Chemical Compounds, Biology and Life Sciences, Proteins, Chronic fatigue, CHAID, Metabolic Detoxication, Phase II, Acetaminophen, 030104 developmental biology, Metabolism, Aliphatic Amino Acids, Quality of Life, Metabolic Detoxication, Phase I, business
Abstract

Chronic fatigue, in its various manifestations, frequently co-occur with pain, sleep disturbances and depression and is a non-communicable condition which is rapidly becoming endemic worldwide. However, it is handicapped by a lack of objective definitions and diagnostic measures. This has prompted the World Health Organization to develop an international instrument whose intended purpose is to improve quality of life (QOL), with energy and fatigue as one domain of focus. To complement this objective, the interface between detoxification, the exposome, and xenobiotic-sensing by nuclear receptors that mediate induction of biotransformation-linked genes, is stimulating renewed attention to a rational development of strategies to identify the metabolic profiles in complex multifactorial conditions like fatigue. Here we present results from a seven-year study of a cohort of 576 female patients suffering from low to high levels of chronic fatigue, in which phase I and phase II biotransformation was assessed. The biotransformation profiles used were based on hepatic detoxification challenge tests through oral caffeine, acetaminophen and acetylsalicylic acid ingestion coupled with oxidative stress analyses. The interventions indicated normal phase I but increased phase II glucuronidation and glycination conjugation. Complementarity was indicated between a fatigue scale, medical symptoms and associated energy-related parameters by application of Chi-square Automatic Interaction Detector (CHAID) analysis. The presented study provides a cluster of data from which we propose that multidisciplinary inputs from the combination of a fatigue scale, medical symptoms and biotransformation profiles provide the rationale for the development of a comprehensive laboratory instrument for improved diagnostics and personalized interventions in patients with chronic fatigue with a view to improving their QOL.

Published
2019

10. The Use ofp-Aminobenzoic Acid as a Probe Substance for the Targeted Profiling of Glycine Conjugation

Author

Elardus Erasmus, Rencia van der Sluis, Carla Nortje, and Alberdina A. van Dijk

Subjects
0301 basic medicine, Aspirin, biology, Chemistry, Paha, Health, Toxicology and Mutagenesis, General Medicine, Urine, Metabolism, Toxicology, Biochemistry, Enzyme assay, Excretion, 03 medical and health sciences, 030104 developmental biology, Biotransformation, medicine, biology.protein, Molecular Medicine, Molecular Biology, Gene, medicine.drug
Abstract

Glycine conjugation facilitates the metabolism of toxic aromatic acids, capable of disrupting mitochondrial integrity. Owing to the high exposure to toxic substrates, characterization of individual glycine conjugation capacity, and its regulatory factors has become increasingly important. Aspirin and benzoate have been employed for this purpose; however, adverse reactions, aspirin intolerance, and Reye's syndrome in children are substantial drawbacks. The goal of this study was to investigate p-aminobenzoic acid (PABA) as an alternative glycine conjugation probe. Ten human volunteers participated in a PABA challenge test, and p-aminohippuric acid (PAHA), p-acetamidobenzoic acid, and p-acetamidohippuric acid were quantified in urine. The glycine N-acyltransferase gene of the volunteers was also screened for two polymorphisms associated with normal and increased enzyme activity. All of the individuals were homozygous for increased enzyme activity, but excretion of PAHA varied significantly (16-56%, hippurate ratio). The intricacies of PABA metabolism revealed possible limiting factors and the potential of PABA as an indicator of Phase 0 biotransformation.

Published
2015

11. Conservation of the coding regions of the glycine N-acyltransferase gene further suggests that glycine conjugation is an essential detoxification pathway

Author

Alberdina A. van Dijk, Rencia van der Sluis, Christoffel P. S. Badenhorst, Elardus Erasmus, Etresia van Dyk, and Francois H. van der Westhuizen

Subjects
Genotype, Glycine, Black People, Biology, Benzoates, Polymorphism, Single Nucleotide, White People, Xenobiotics, Cohort Studies, GLYAT, Open Reading Frames, South Africa, Gene Frequency, Genetic variation, Ethnicity, Genetics, Humans, Coding region, Gene, Conserved Sequence, Phylogeny, Hippurates, Haplotype, Sequence Analysis, DNA, General Medicine, Open reading frame, Haplotypes, Liver, Biochemistry, Acyltransferases, Metabolic Networks and Pathways, Drug metabolism
Abstract

Thorough investigation of the glycine conjugation pathway has been neglected. No defect of the glycine conjugation pathway has been reported and this could reflect the essential role of glycine conjugation in hepatic metabolism. Therefore, we hypothesised that genetic variation in the open reading frame (ORF) of the GLYAT gene should be low and that deleterious alleles would be found at low frequencies. This hypothesis was investigated by analysing the genetic variation of the human GLYAT ORF using data available in public databases. We also sequenced the GLYAT ORF of a small cohort of South African Afrikaner Caucasian individuals. In total, data from 1537 individuals was analysed. The two most prominent GLYAT haplotypes in all populations analysed, were S156 (70%) and T17S156 (20%). The S156C199 and S156H131 haplotypes, which have a negative effect on the enzyme activity of a recombinant human GLYAT, were detected at very low frequencies. In the Afrikaner Caucasian cohort a novel Q61L SNP occurring at a high frequency (12%) was detected. The results of this study indicated that the GLYAT ORF is highly conserved and supported the hypothesis that the glycine conjugation pathway is an essential detoxification pathway. These findings emphasise the importance of future investigations to determine the in vivo capacity of the glycine conjugation pathway for the detoxification of benzoate and other xenobiotics.

Published
2015

12. New insights into the catalytic mechanism of human glycine N‐acyltransferase

Author

Carla Nortje, Elardus Erasmus, Vida Ungerer, Alberdina A. van Dijk, and Rencia van der Sluis

Subjects
0301 basic medicine, Spectrometry, Mass, Electrospray Ionization, Stereochemistry, Health, Toxicology and Mutagenesis, Allosteric regulation, Glycine, Cooperativity, Toxicology, Biochemistry, GLYAT, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Tandem Mass Spectrometry, Humans, Molecular Biology, Chromatography, High Pressure Liquid, chemistry.chemical_classification, Hippurates, Substrate (chemistry), Hippuric acid, General Medicine, Recombinant Proteins, Kinetics, Metabolic pathway, 030104 developmental biology, Enzyme, chemistry, 030220 oncology & carcinogenesis, Solvents, Molecular Medicine, Colorimetry, Acyl Coenzyme A, Acyltransferases
Abstract

Even though the glycine conjugation pathway was one of the first metabolic pathways to be discovered, this pathway remains very poorly characterized. The bi-substrate kinetic parameters of a recombinant human glycine N-acyltransferase (GLYAT, E.C. 2.3.1.13) were determined using the traditional colorimetric method and a newly developed HPLC-ESI-MS/MS method. Previous studies analyzing the kinetic parameters of GLYAT, indicated a random Bi-Bi and/or ping-pong mechanism. In this study, the hippuric acid concentrations produced by the GLYAT enzyme reaction were analyzed using the allosteric sigmoidal enzyme kinetic module. Analyses of the initial rate (v) against substrate concentration plots, produced a sigmoidal curve (substrate activation) when the benzoyl-CoA concentrations was kept constant, whereas the plot with glycine concentrations kept constant, passed through a maximum (substrate inhibition). Thus, human GLYAT exhibits mechanistic kinetic cooperativity as described by the Ferdinand enzyme mechanism rather than the previously assumed Michaelis-Menten reaction mechanism.

Published
2017

13. Xenobiotic/medium chain fatty acid: CoA ligase - a critical review on its role in fatty acid metabolism and the detoxification of benzoic acid and aspirin

Author

Elardus Erasmus and Rencia van der Sluis

Subjects
0301 basic medicine, Biology, Toxicology, Polymorphism, Single Nucleotide, Substrate Specificity, Xenobiotics, 03 medical and health sciences, chemistry.chemical_compound, Detoxification, Coenzyme A Ligases, medicine, Animals, Humans, Medium chain fatty acid, Benzoic acid, Pharmacology, chemistry.chemical_classification, Fatty acid metabolism, Aspirin, Fatty Acids, General Medicine, Metabolism, Benzoic Acid, medicine.disease, 030104 developmental biology, Enzyme, chemistry, Biochemistry, Metabolic syndrome, Xenobiotic
Abstract

Activation of fatty acids by the acyl-CoA synthetases (ACSs) is the vital first step in fatty acid metabolism. The enzymatic and physiological characterization of the human xenobiotic/medium chain fatty acid: CoA ligases (ACSMs) has been severely neglected even though xenobiotics, such as benzoate and salicylate, are detoxified through this pathway.This review will focus on the nomenclature and substrate specificity of the human ACSM ligases; the biochemical and enzymatic characterization of ACSM1 and ACSM2B; the high sequence homology of the ACSM2 genes (ACSM2A and ACSM2B) as well as what is currently known regarding disease association studies.Several discrepancies exist in the current literature that should be taken note of. For example, the single nucleotide polymorphisms (SNPs) reported to be associated with aspirin metabolism and multiple risk factors of metabolic syndrome are incorrect. Kinetic data on the substrate specificity of the human ACSM ligases are non-existent and currently no data exist on the influence of SNPs on the enzyme activity of these ligases. One of the biggest obstacles currently in the field is that glycine conjugation is continuously studied as a one-step process, which means that key regulatory factors of the two individual steps remain unknown.

Published
2016

14. Unbalanced biotransformation metabolism and oxidative stress status: implications for deficient fatty acid oxidation

Author

Pieter J. Pretorius, Catharina M. C. Mels, Elardus Erasmus, Francois H. van der Westhuizen, 12076341 - Mels, Catharina Martha Cornelia, 10066136 - Erasmus, Elardus, 10213503 - Van der Westhuizen, Francois Hendrikus, and 10176705 - Pretorius, Petrus Jacobus

Subjects
Chemistry, Endogeny, Metabolism, medicine.disease_cause, Oxidative stress status, chemistry.chemical_compound, Biotransformation, Biochemistry, Fatty acid oxidation, Detoxification, Biotransformation metabolism, Toxicity, medicine, Xenobiotic, Beta oxidation, Oxidative stress
Abstract

The concept of accumulating xenobiotics within the human body as a health risk is well known. However, these compounds can also be endo-genous, as in the case of inborn errors of me-tabolism, and lead to some of the same symp-toms as seen in xenobiotic intoxication. Bio-transformation of both exogenous and endo-genous toxic compounds is an important function of the liver, and the critical balance between these systems is of fundamental importance for cellular health. We propose a novel model, to describe the critical balance between Phase I and Phase II biotransformation and how a disturbance in this balance will increase the oxidative stress status, with resulting pathological consequences. We further used deficient fatty acid oxidation to verify the proposed model, as deficient fatty acid oxidation is associated with the accumulation of characteristic metabolites. These accumulating metabolites undergo both Phase I and Phase II biotransformation reactions, with resulting depletion of biotransformation substrates and co-factors. Depletion of these important biomolecules is capable of disturbing the balance between Phase I and Phase II reactions, and disturbance of this balance will increase oxidative stress status. The value of the proposed model is illustrated by its application to a clinical case investigated in our laboratory. In this case the possibility of deficient fatty acid oxidation only became evident once the critical balance between Phase I and Phase II biotransformation was restored with oral replenishment of biotransformation substrates. In addition to bio-chemical improvement, there was also significant clinical improvement. The significance of this model lies within the treatment possibilities, as the assessment of biotransformation metabolism and oxidative stress status can lead to the development of nutritional treatment strategies to correct imbalances. This in turn may reduce the chances of, or delay the onset of certain disease states. http://dx.doi.org/10.4236/health.2011.31009 Health is an openly accessible and peer-reviewed journal

Published
2011

15. The Use of p-Aminobenzoic Acid as a Probe Substance for the Targeted Profiling of Glycine Conjugation

Author

Carla, Nortje, Rencia, van der Sluis, Alberdina Aike, van Dijk, and Elardus, Erasmus

Subjects
Hippurates, Molecular Probes, Glycine, Humans, 4-Aminobenzoic Acid
Abstract

Glycine conjugation facilitates the metabolism of toxic aromatic acids, capable of disrupting mitochondrial integrity. Owing to the high exposure to toxic substrates, characterization of individual glycine conjugation capacity, and its regulatory factors has become increasingly important. Aspirin and benzoate have been employed for this purpose; however, adverse reactions, aspirin intolerance, and Reye's syndrome in children are substantial drawbacks. The goal of this study was to investigate p-aminobenzoic acid (PABA) as an alternative glycine conjugation probe. Ten human volunteers participated in a PABA challenge test, and p-aminohippuric acid (PAHA), p-acetamidobenzoic acid, and p-acetamidohippuric acid were quantified in urine. The glycine N-acyltransferase gene of the volunteers was also screened for two polymorphisms associated with normal and increased enzyme activity. All of the individuals were homozygous for increased enzyme activity, but excretion of PAHA varied significantly (16-56%, hippurate ratio). The intricacies of PABA metabolism revealed possible limiting factors and the potential of PABA as an indicator of Phase 0 biotransformation.

Published
2015

16. The simultaneous detection and quantification of p-aminobenzoic acid and its phase 2 biotransformation metabolites in human urine using LC-MS/MS

Author

Peet Jansen van Rensburg, Elardus Erasmus, Cecile Cooke, and Carla Nortje

Subjects
Chromatography, Chemistry, Clinical Biochemistry, Glycine, General Medicine, Urine, Urinalysis, Analytical Chemistry, Medical Laboratory Technology, Biotransformation, P-Aminobenzoic acid, Limit of Detection, Tandem Mass Spectrometry, Phase (matter), Lc ms ms, Humans, General Pharmacology, Toxicology and Pharmaceutics, 4-Aminobenzoic Acid, Chromatography, Liquid
Abstract

Background: p-Aminobenzoic acid (PABA) can be used as a probe substance to investigate glycine conjugation, a reaction of phase 2 biotransformation. Methodology/Results: An LC–MS/MS method for simultaneous quantification of PABA and its metabolites from human urine was developed and validated. The metabolites can be quantified with acceptable precision and accuracy directly from human urine samples after ingestion of 550 mg PABA. Conclusion: The developed LC–MS/MS assay is to our knowledge the first method available for the simultaneous quantification of PABA and its glycine conjugation metabolites in human urine and provides important quantitative data for studies of this phase 2 biotransformation pathway.

Published
2015

17. Rosa roxburghii supplementation in a controlled feeding study increases plasma antioxidant capacity and glutathione redox state

Author

Johann C. Jerling, Martin Brits, Du Toit Loots, H. Salome Kruger, Roan Louw, Welma Oosthuizen, Catharina S. Janse van Rensburg, Francois H. van der Westhuizen, and Elardus Erasmus

Subjects
Adult, Male, Antioxidant, medicine.medical_treatment, Glutathione reductase, Medicine (miscellaneous), Pharmacology, Rosa, Antioxidants, Superoxide dismutase, chemistry.chemical_compound, Blood plasma, medicine, Humans, Single-Blind Method, chemistry.chemical_classification, Glutathione Peroxidase, Nutrition and Dietetics, biology, Plant Extracts, Superoxide Dismutase, Glutathione peroxidase, Deoxyguanosine, Glutathione, Micronutrient, Glutathione Reductase, chemistry, Biochemistry, 8-Hydroxy-2'-Deoxyguanosine, Polyphenol, Dietary Supplements, biology.protein, Female, Oxidation-Reduction
Abstract

Rosa roxburghii (RR) is a plant of which the fruit juice has been used as a medicinal remedy for a variety of diseases. It has been proposed that the putative beneficial properties are related to its antioxidant potential. We investigated the contribution of a supplemented RR fruit sample on the antioxidant status in a cohort of healthy humans. A total of 36 young, healthy and non–smoking individuals were recruited for this randomised placebo–controlled, single–blind trial. The study was diet controlled over a five–week period with a two week run–in period before participants daily received a placebo or an encapsulated supplement of RR sample. Total antioxidant capacity, glutathione redox state, glutathione reductase, glutathione peroxidase, superoxide dismutase and 8–OHdG levels were measured. RR supplementation significantly increased plasma antioxidant capacity (p = 0.04) and GSH:GSSG ratios in blood (p = 0.03). No significant changes in 8–OHdG levels, total glutathione levels or antioxidant modulating enzymes were detected suggesting that the observed shift of the glutathione redox state probably occurs via the antioxidant mediated protection of GSH. We conclude that these findings support the putative beneficial properties that have been linked to Rosa roxburghii as a dietary supplement that can enhance antioxidant status.

Published
2005

18. A new perspective on the importance of glycine conjugation in the metabolism of aromatic acids

Author

Alberdina A. van Dijk, Christoffel P. S. Badenhorst, Elardus Erasmus, Rencia van der Sluis, and Carla Nortje

Subjects
benzoate, Stereochemistry, Chemistry, Glycine, Bursary, Library science, Benzoic Acid, Glycine N-acyltransferase, Benzoates, glycine conjugation, Amino Acids, Aromatic, hippurate, glycine N-acyltransferase, Animals, Humans, Pharmacology (medical), Coenzyme A, General Pharmacology, Toxicology and Pharmaceutics, CASTOR disorders, glycine deportation
Abstract

A number of endogenous and xenobiotic organic acids are conjugated to glycine, in animals ranging from mosquitoes to humans. Glycine conjugation has generally been assumed to be a detoxification mechanism, increasing the water solubility of organic acids in order to facilitate urinary excretion. However, the recently proposed glycine deportation hypothesis states that the role of the amino acid conjugations, including glycine conjugation, is to regulate systemic levels of amino acids that are also utilized as neurotransmitters in the central nervous systems of animals. This hypothesis is based on the observation that, compared to glucuronidation, glycine conjugation does not significantly increase the water solubility of aromatic acids. In this review it will be argued that the major role of glycine conjugation is to dispose of the end products of phenylpropionate metabolism. Furthermore, glucuronidation, which occurs in the endoplasmic reticulum, would not be ideal for the detoxification of free benzoate, which has been shown to accumulate in the mitochondrial matrix. Glycine conjugation, however, prevents accumulation of benzoic acid in the mitochondrial matrix by forming hippurate, a less lipophilic conjugate that can be more readily transported out of the mitochondria. Finally, it will be explained that the glycine conjugation of benzoate, a commonly used preservative, exacerbates the dietary deficiency of glycine in humans. Because the resulting shortage of glycine can negatively influence brain neurochemistry and the synthesis of collagen, nucleic acids, porphyrins, and other important metabolites, the risks of using benzoate as a preservative should not be underestimated http://www.tandfonline.com/toc/idmr20/current The National Research Foundation for a PhD bursary awarded to C.P.S. Badenhorst, and an MSc bursary awarded to C. Nortje. The National Research Foundation also awarded a Thuthuka research grant [TTK20110803000023154] to R. van der Sluis.

Published
2014

19. The utilization of alanine, glutamic acid, and serine as amino acid substrates for glycineN-acyltransferase

Author

Petrus J. Pretorius, Elardus Erasmus, and Francois H. van der Westhuizen

Subjects
Alanine, chemistry.chemical_classification, Glycine cleavage system, Stereochemistry, Health, Toxicology and Mutagenesis, Electrospray ionization, General Medicine, Glutamic acid, Toxicology, Biochemistry, Amino acid, Serine, chemistry.chemical_compound, chemistry, Glycine, Molecular Medicine, Molecular Biology, Benzoic acid
Abstract

The conjugation of benzoyl-CoA with the aliphatic and acidic amino acids by glycine N-acyltransferase, as well as the amides of the latter group, was investigated. Bovine and human liver benzoyl-amino acid conjugation were investigated using electrospray ionization tandem mass spectrometry (ESI-MS-MS). Bovine glycine N-acyltransferase catalyzed conjugation of benzoyl-CoA with Gly (Km(Gly) = 6.2 mM), Asn (Km(Asn) = 129 mM), Gln (Km(Gln) = 353 mM), Ala (Km(Ala) = 1573 mM), Glu (Km(Glu) = 1148 mM) as well as Ser in a sequential mechanism. In the case of the human form, conjugation with Gly (Km(Gly) = 6.4 mM), Ala (Km(Ala) = 997 mM), and Glu was detected. The presence of these alternative conjugates did not inhibit bovine glycine N-acyltransferase activity significantly. Considering the relatively low levels at which these conjugates are formed, it is unlikely that they will have a significant contribution to acyl-amino acid conjugation under normal conditions in vivo. However, their cumulative contribution to acyl-amino acid conjugation under metabolic disease states may prove to have a useful contribution to detoxification of elevated acyl-CoAs.

Published
2000

20. Carnitine Palmitoyltransferase I Activity Monitoring in Fibroblasts and Leukocytes Using Electrospray Ionization Mass Spectrometry

Author

Petrus J. Pretorius, L Nolte, F H van der Westhuizen, and Elardus Erasmus

Subjects
Electrospray, Electrospray ionization, Biophysics, Tandem mass spectrometry, Biochemistry, Mass Spectrometry, chemistry.chemical_compound, Leukocytes, medicine, Humans, Carnitine, Inner mitochondrial membrane, Molecular Biology, Cells, Cultured, Palmitoylcarnitine, Chromatography, Carnitine O-Palmitoyltransferase, Palmitoyl Coenzyme A, Chemistry, Cell Biology, Fibroblasts, Enzyme Activation, Specific activity, Carnitine palmitoyltransferase I, medicine.drug
Abstract

Carnitine palmitoyltransferase I (CPT I) is one of the enzymes associated with normal mitochondrial membrane transport of certain metabolites. The importance of the enzyme in normal energy production is well illustrated during fasting conditions when a large flux of long-chain fatty acids must be transported over the mitochondrial membrane to undergo beta-oxidation. Up to now CPT I activity has been assayed in various tissues, including liver, leukocytes, platelets, and fibroblasts by the use of an isotope exchange forward assay which measures the rate of palmitoyl-l-[methyl-3H]carnitine formation from palmitoyl-CoA and l-[methyl-3H]carnitine. We have developed an electrospray ionization mass spectrometric method for detecting palmitoylcarnitine formation from palmitoyl-CoA and carnitine, thus avoiding the use of radiolabeled isotopes. In this assay, time-dependent conversion of free carnitine by CPT I to palmitoylcarnitine is measured quantitatively, relative to isotopically labelled palmitoylcarnitine, by parent ion monitoring of fragment ion m/z 85. The specific activity of CPT I in fibroblasts and leukocytes compared well with the activity determined with the isotope exchange method, however, the combination of high sensitivity and selectivity of tandem mass spectrometry along with the environment-friendly nature of the electrospray method makes it an ideal technique to measure CPT I activity.

Published
1998

21. Glycine conjugation: importance in metabolism, the role of glycine N-acyltransferase, and factors that influence interindividual variation

Author

Rencia van der Sluis, Elardus Erasmus, Christoffel P. S. Badenhorst, and Alberdina A. van Dijk

Subjects
Coenzyme A, Glycine, Biology, Toxicology, Glycine N-acyltransferase, Kidney, Polymorphism, Single Nucleotide, Hepatitis, Xenobiotics, GLYAT, chemistry.chemical_compound, Hydroxybenzoates, Humans, Pharmacology, Glycine metabolism, Liver Neoplasms, Musculoskeletal Development, Kidney metabolism, General Medicine, Metabolism, Mitochondria, Metabolic pathway, Biochemistry, chemistry, Liver, Inactivation, Metabolic, Xenobiotic, Acyltransferases
Abstract

Glycine conjugation of mitochondrial acyl-CoAs, catalyzed by glycine N-acyltransferase (GLYAT, E.C. 2.3.1.13), is an important metabolic pathway responsible for maintaining adequate levels of free coenzyme A (CoASH). However, because of the small number of pharmaceutical drugs that are conjugated to glycine, the pathway has not yet been characterized in detail. Here, we review the causes and possible consequences of interindividual variation in the glycine conjugation pathway.The authors review the importance of CoASH in metabolism, formation and toxicity of xenobiotic acyl-CoAs, and mechanisms for restoring levels of CoASH. They focus on GLYAT, glycine conjugation, how genetic variation in the GLYAT gene could influence glycine conjugation, and the emerging roles of glycine metabolism in cancer and musculoskeletal development.The substrate selectivity of GLYAT and its variants needs to be further characterized, as organic acids can be toxic if the corresponding acyl-CoA is not a substrate for glycine conjugation. GLYAT activity affects mitochondrial ATP production, glycine availability, CoASH availability, and the toxicity of various organic acids. Therefore, variation in the glycine conjugation pathway could influence liver cancer, musculoskeletal development, and mitochondrial energy metabolism.

Published
2013

22. L-carnitine and long-chain acylcarnitines are positively correlated with ambulatory blood pressure in humans: the SABPA study

Author

Rudolph Schutte, Aletta E. Schutte, Catharina M. C. Mels, Elardus Erasmus, Hugo W. Huisman, Ruan Kruger, Carla M.T. Fourie, Nicolaas T. Malan, Johannes M. Van Rooyen, Leoné Malan, Wayne Smith, 12076341 - Mels, Catharina Martha Cornelia, 10922180 - Schutte, Aletta Elisabeth, 10066136 - Erasmus, Elardus, 10062718 - Huisman, Hugo Willem, 12201405 - Schutte, Rudolph, 10062491 - Fourie, Catharina Maria Theresia, 20035632 - Kruger, Ruan, 10059539 - Van Rooyen, Johannes Marthinus, 22945717 - Smith, Wayne, 10056173 - Malan, Nicolaas Theodor, and 10060871 - Malan, Leoné

Subjects
Adult, Male, medicine.medical_specialty, Ambulatory blood pressure, Clinical chemistry, Diastole, long-chain acylcarnitines, nuclear receptors, Black People, L-Carnitine, Reference range, Blood Pressure, b-Oxidation, Biochemistry, White People, Internal medicine, Carnitine, medicine, Humans, heart lipid metabolism, business.industry, Organic Chemistry, Confounding, lipid biochemistry, Cell Biology, Blood Pressure Monitoring, Ambulatory, Middle Aged, Endocrinology, Cross-Sectional Studies, fatty acid metabolism, Ambulatory, Hypertension, ethnicity, business, medicine.drug, Lipidology
Abstract

The prevalence of hypertension in sub-Saharan Africa is increasing rapidly, and treatment remains challenging. Although the use of l-carnitine in treatment has received much attention, studies reporting on physiological l-carnitine levels in hypertensives are limited. Our aim was to determine physiological levels of l-carnitine and acylcarnitines in African and Caucasian men, and to investigate associations between ambulatory blood pressure (BP) and carnitine levels. Participants included 101 African and 101 Caucasian teachers. Ambulatory BP measurements were conducted, and l-carnitine and acylcarnitine levels determined. African men showed significantly higher systolic BP (p

Published
2012

23. The detection of 3-methylglutarylcarnitine and a new dicarboxylic conjugate, 3-methylglutaconylcarnitine, in 3-methylglutaconic aciduria

Author

S. Jooste, Lodewyk J. Mienie, W J de Wet, Elardus Erasmus, and Kenneth M. Gibson

Subjects
Male, medicine.medical_specialty, Chromatography, Gas, Metabolite, Clinical Biochemistry, Glycine, Urine, Spectrometry, Mass, Fast Atom Bombardment, Biochemistry, Glutarates, Excretion, chemistry.chemical_compound, Carnitine, Internal medicine, Detoxification, medicine, Humans, Hydro-Lyases, Biochemistry (medical), Infant, General Medicine, Fibroblasts, 3-Methylglutaconic Aciduria, Endocrinology, chemistry, Female, Acidosis, medicine.drug, Conjugate
Abstract

Two patients, diagnosed with 3-methylglutaconic aciduria, who presented with diverse clinical and metabolic manifestations, were studied. Glycine conjugation as a possible detoxification mechanism in these two patients yielded negative results. Carnitine conjugates were however detected. 3-Methylglutarylcarnitine was observed in the urine of both patients, while one of the patients excreted detectable quantities of 3-methylglutaconylcarnitine, a previously unknown metabolite. The presence of this metabolite in urine samples from one patient and the apparent correlation between administered carnitine and the conjugate excretion profile seems to indicate that carnitine may play an important role in future therapeutic programmes.

Published
1994

24. Increased Excretion of C4-Carnitine Species after a Therapeutic Acetylsalicylic Acid Dose: Evidence for an Inhibitory Effect on Short-Chain Fatty Acid Metabolism

Author

Peet Jansen van Rensburg, Catharina M. C. Mels, Pieter J. Pretorius, Francois H. van der Westhuizen, and Elardus Erasmus

Subjects
Fatty acid metabolism, Article Subject, business.industry, Metabolite, Metabolism, Pharmacology, Acetaminophen, Excretion, chemistry.chemical_compound, Therapeutic index, chemistry, In vivo, Medicine, Carnitine, business, medicine.drug, Research Article
Abstract

Acetylsalicylic acid and/or its metabolites are implicated to have various effects on metabolism and, especially, on mitochondrial function. These effects include both inhibitory and stimulatory effects. We investigated the effect of both combined and separate oral acetylsalicylic acid and acetaminophen administration at therapeutic doses on the urinary metabolite profile of human subjects. In this paper, we provided in vivo evidence, in human subjects, of a statistically significant increase in isobutyrylcarnitine after the administration of a therapeutic dose of acetylsalicylic acid. We, therefore, propose an inhibitory effect of acetylsalicylic acid on the short-chain fatty acid metabolism, possibly at the level of isobutyryl-CoA dehydrogenase.

Published
2011
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25. Prenatal analysis in two suspected cases of glutathione synthetase deficiency

Author

W J de Wet, W. N. de Vries, B. Carlsson, Lodewyk J. Mienie, Elardus Erasmus, and A. Larsson

Subjects
Male, medicine.medical_specialty, Amniotic fluid, Physiology, Prenatal diagnosis, Urine, Gas Chromatography-Mass Spectrometry, Glutathione Synthase, Pregnancy, Prenatal Diagnosis, Internal medicine, Genetics, medicine, Humans, Chromatography, High Pressure Liquid, Genetics (clinical), medicine.diagnostic_test, business.industry, Infant, Newborn, Infant, Amniotic Fluid, medicine.disease, Glutathione synthetase deficiency, Glutathione synthetase, Pedigree, Pyrrolidonecarboxylic Acid, Endocrinology, Amniocentesis, Female, Urine sample, business, Metabolism, Inborn Errors
Abstract

Prenatal diagnosis was performed in a family affected by generalized glutathione synthetase deficiency. The disorder is transmitted by autosomal recessive inheritance. The first child born in this family died of the disorder at 6 weeks of age. Prenatal diagnosis was performed in two subsequent pregnancies. Amniotic fluid samples were collected by amniocentesis in the 16th and 17th weeks of pregnancy, respectively. In the case of the second pregnancy the concentration of 5-oxoproline in the amniotic fluid was measured by stable isotope dilution, while both stable isotope dilution and glutathione synthetase activity measurements were employed in the prenatal analysis of the third pregnancy. The 5-oxoproline concentration in the second pregnancy was even lower than that of the controls and in the case of the third pregnancy the results fell within the control range. The second pregnancy resulted in the birth of a clinically healthy girl, and the outcome of 5-oxoproline concentration in a urine sample taken just after birth confirmed the unaffected state. The third pregnancy resulted in the birth of a healthy boy at term, and the 5-oxoproline concentration in his urine and the glutathione synthetase activity in haemolysates were determined. The results confirmed that this infant was also unaffected and he apparently had two normal alleles for the enzyme.

Published
1993

26. Cachexia-Anorexia Syndrome

Author

Nils Peters, Martin Dichgans, Sankar Surendran, Josep M. Argilés, Francisco J. López-Soriano, Sílvia Busquets, Klaus Dittmann, H. Peter Rodemann, Anca Sindrilaru, Cord Sunderkötter, Hiroshi Watanabe, Dan M. Roden, Giora Feuerstein, Robert Ruffolo, Ralph Knöll, Srijita Sen-Chowdhry, Deirdre Ward, William J. McKenna, Jens Mogensen, Mangala A. Nadkarni, F. Elizabeth Martin, Nicholas A. Jacques, Neil Hunter, Markus Böhm, Thomas A. Luger, Tilman Grune, Nicola Longo, Cristina Amat Di San Filippo, Elisabeth L. Schwarz, Marzia Pasquali, Elardus Erasmus, Lodewyk J. Mienie, Marcus Deschauer, Stephan Zierz, Du Toit Loots, Lee A. Denson, Helen C. Su, Michael J. Lenardo, Heather E. McDermid, Graeme Eisenhofer, Oscar De La Calle-Martin, Natalia Casamitjana, Cristina Woellner, Bodo Grimbacher, Detlef Schuppan, Walter Lisch, Berthold Seitz, Andreas Janecke, Tommie V. McCarthy, Carina Wallgren-Pettersson, Joost Haan, Michael T. Wunderlich, Nicole Revencu, Miikka Vikkula, Akira Honda, Seema R. Lalani, John W. Belmont, Julian Ilcheff Borissoff, Hugo Ten Cate, Takatoshi Kasai, Daniel Markovich, Michael Trauner, Carlo Selmi, M. Eric Gershwin, Malcolm A. Lyons, Kirk J. Maurer, Martin C. Carey, Frank Lammert, Tilman Sauerbruch, Peter L. M. Jansen, Holger Sudhoff, Stephan Vom Dahl, Detlev Ameis, Muhammad Faiyaz-Ul-Haque, Syed Hassan Ejaz Zaidi, Caroline Silve, Piero Pavone, Rosario Rich Trifiletti, Friedrich Asmus, Petra Weckerle, Gesa Schwanitz, Barbara Busert, Tanya Thiagarajah, Walter Muir, Ben Pickard, Anthony J. Cleare, Hubert Scharnagl, Winfried März, Ralf Kubitz, Dieter Häussinger, Norbert Schwenzer, Alexander K. C. Leung, William Lane M. Robson, Andrew L. Wong, Yener Güzelcan, Francesco Trotta, Andrea Lo Monaco, Reginald S. Sauve, Todd D. Rozen, Gloria L. David, Darryl C. Zeldin, P. Syamasundar Rao, Anne M. Molloy, John M. Scott, Göksel Somay, Sultan Ayoub Meo, Joshua Fierer, Mark Berneburg, Thomas Schwarz, Jürgen Schölmerich, Anne Katrin Lampe, Kate Bushby, William J. Speake, John Simpson, Hope E. Uronis, Gerard C. Blobe, Diego Franco, Amelia Aránega, Eggert Stockfleth, Ingo Nindl, Christian Hamel, Felix G. Riepe, Erich C. Strauss, Vinzenz Oji, Heiko Traupe, Thomas Frieling, Andrea Cavani, Giampiero Girolomoni, Randolf Brehler, Ortrud K. Steinlein, Janet Y. Uriu-Adams, Jean-Charles Deybach, Hervé Puy, Michael L. S. Ma, Patrick T. S. Ma, Alexander A. C. Leung, Jolanta Wierzba, Angelo Selicorni, Yskert Von Kodolitsch, Wulf Ito, Nilanjana Maulik, Rainer Voisard, Hiroki Teragawa, Kazuaki Chayama, Renzo Guerrini, Carla Marini, Elena Parrini, Alexander Storch, Johannes Schwarz, Sonja Ständer, Kam-Lun Ellis Hon, Chiu-Wing Winnie Chu, Olaf A. Bodamer, Sylvia Stöckler-Ipsiroglu, Tatsuro Kondoh, Osamu Shimokawa, Naoki Harada, Hiroyuki Moriuchi, Karsten Schulmann, Christian Pox, Wolff Schmiegel, James E. Crowe, Nan Hatch, Mark Bothwell, Holger S. Willenberg, Stefan R. Bornstein, Zsolt Urban, Francesco Borgia, Fabrizio Guarneri, Mario Vaccaro, Dieter Metze, Karl Kunzelmann, Marcus Mall, Paul Cheung-Lung Choi, William A. Gahl, Thomas Knoll, Albrecht Hesse, and Michaela Jaksch

Published
2009

27. Chorioretinitis

Author

Nils Peters, Martin Dichgans, Sankar Surendran, Josep M. Argilés, Francisco J. López-Soriano, Sílvia Busquets, Klaus Dittmann, H. Peter Rodemann, Anca Sindrilaru, Cord Sunderkötter, Hiroshi Watanabe, Dan M. Roden, Giora Feuerstein, Robert Ruffolo, Ralph Knöll, Srijita Sen-Chowdhry, Deirdre Ward, William J. McKenna, Jens Mogensen, Mangala A. Nadkarni, F. Elizabeth Martin, Nicholas A. Jacques, Neil Hunter, Markus Böhm, Thomas A. Luger, Tilman Grune, Nicola Longo, Cristina Amat Di San Filippo, Elisabeth L. Schwarz, Marzia Pasquali, Elardus Erasmus, Lodewyk J. Mienie, Marcus Deschauer, Stephan Zierz, Du Toit Loots, Lee A. Denson, Helen C. Su, Michael J. Lenardo, Heather E. McDermid, Graeme Eisenhofer, Oscar De La Calle-Martin, Natalia Casamitjana, Cristina Woellner, Bodo Grimbacher, Detlef Schuppan, Walter Lisch, Berthold Seitz, Andreas Janecke, Tommie V. McCarthy, Carina Wallgren-Pettersson, Joost Haan, Michael T. Wunderlich, Nicole Revencu, Miikka Vikkula, Akira Honda, Seema R. Lalani, John W. Belmont, Julian Ilcheff Borissoff, Hugo Ten Cate, Takatoshi Kasai, Daniel Markovich, Michael Trauner, Carlo Selmi, M. Eric Gershwin, Malcolm A. Lyons, Kirk J. Maurer, Martin C. Carey, Frank Lammert, Tilman Sauerbruch, Peter L. M. Jansen, Holger Sudhoff, Stephan Vom Dahl, Detlev Ameis, Muhammad Faiyaz-Ul-Haque, Syed Hassan Ejaz Zaidi, Caroline Silve, Piero Pavone, Rosario Rich Trifiletti, Friedrich Asmus, Petra Weckerle, Gesa Schwanitz, Barbara Busert, Tanya Thiagarajah, Walter Muir, Ben Pickard, Anthony J. Cleare, Hubert Scharnagl, Winfried März, Ralf Kubitz, Dieter Häussinger, Norbert Schwenzer, Alexander K. C. Leung, William Lane M. Robson, Andrew L. Wong, Yener Güzelcan, Francesco Trotta, Andrea Lo Monaco, Reginald S. Sauve, Todd D. Rozen, Gloria L. David, Darryl C. Zeldin, P. Syamasundar Rao, Anne M. Molloy, John M. Scott, Göksel Somay, Sultan Ayoub Meo, Joshua Fierer, Mark Berneburg, Thomas Schwarz, Jürgen Schölmerich, Anne Katrin Lampe, Kate Bushby, William J. Speake, John Simpson, Hope E. Uronis, Gerard C. Blobe, Diego Franco, Amelia Aránega, Eggert Stockfleth, Ingo Nindl, Christian Hamel, Felix G. Riepe, Erich C. Strauss, Vinzenz Oji, Heiko Traupe, Thomas Frieling, Andrea Cavani, Giampiero Girolomoni, Randolf Brehler, Ortrud K. Steinlein, Janet Y. Uriu-Adams, Jean-Charles Deybach, Hervé Puy, Michael L. S. Ma, Patrick T. S. Ma, Alexander A. C. Leung, Jolanta Wierzba, Angelo Selicorni, Yskert Von Kodolitsch, Wulf Ito, Nilanjana Maulik, Rainer Voisard, Hiroki Teragawa, Kazuaki Chayama, Renzo Guerrini, Carla Marini, Elena Parrini, Alexander Storch, Johannes Schwarz, Sonja Ständer, Kam-Lun Ellis Hon, Chiu-Wing Winnie Chu, Olaf A. Bodamer, Sylvia Stöckler-Ipsiroglu, Tatsuro Kondoh, Osamu Shimokawa, Naoki Harada, Hiroyuki Moriuchi, Karsten Schulmann, Christian Pox, Wolff Schmiegel, James E. Crowe, Nan Hatch, Mark Bothwell, Holger S. Willenberg, Stefan R. Bornstein, Zsolt Urban, Francesco Borgia, Fabrizio Guarneri, Mario Vaccaro, Dieter Metze, Karl Kunzelmann, Marcus Mall, Paul Cheung-Lung Choi, William A. Gahl, Thomas Knoll, Albrecht Hesse, and Michaela Jaksch

Published
2009

28. Churg Strauss Syndrome

Author

Nils Peters, Martin Dichgans, Sankar Surendran, Josep M. Argilés, Francisco J. López-Soriano, Sílvia Busquets, Klaus Dittmann, H. Peter Rodemann, Anca Sindrilaru, Cord Sunderkötter, Hiroshi Watanabe, Dan M. Roden, Giora Feuerstein, Robert Ruffolo, Ralph Knöll, Srijita Sen-Chowdhry, Deirdre Ward, William J. McKenna, Jens Mogensen, Mangala A. Nadkarni, F. Elizabeth Martin, Nicholas A. Jacques, Neil Hunter, Markus Böhm, Thomas A. Luger, Tilman Grune, Nicola Longo, Cristina Amat Di San Filippo, Elisabeth L. Schwarz, Marzia Pasquali, Elardus Erasmus, Lodewyk J. Mienie, Marcus Deschauer, Stephan Zierz, Du Toit Loots, Lee A. Denson, Helen C. Su, Michael J. Lenardo, Heather E. McDermid, Graeme Eisenhofer, Oscar De La Calle-Martin, Natalia Casamitjana, Cristina Woellner, Bodo Grimbacher, Detlef Schuppan, Walter Lisch, Berthold Seitz, Andreas Janecke, Tommie V. McCarthy, Carina Wallgren-Pettersson, Joost Haan, Michael T. Wunderlich, Nicole Revencu, Miikka Vikkula, Akira Honda, Seema R. Lalani, John W. Belmont, Julian Ilcheff Borissoff, Hugo Ten Cate, Takatoshi Kasai, Daniel Markovich, Michael Trauner, Carlo Selmi, M. Eric Gershwin, Malcolm A. Lyons, Kirk J. Maurer, Martin C. Carey, Frank Lammert, Tilman Sauerbruch, Peter L. M. Jansen, Holger Sudhoff, Stephan Vom Dahl, Detlev Ameis, Muhammad Faiyaz-Ul-Haque, Syed Hassan Ejaz Zaidi, Caroline Silve, Piero Pavone, Rosario Rich Trifiletti, Friedrich Asmus, Petra Weckerle, Gesa Schwanitz, Barbara Busert, Tanya Thiagarajah, Walter Muir, Ben Pickard, Anthony J. Cleare, Hubert Scharnagl, Winfried März, Ralf Kubitz, Dieter Häussinger, Norbert Schwenzer, Alexander K. C. Leung, William Lane M. Robson, Andrew L. Wong, Yener Güzelcan, Francesco Trotta, Andrea Lo Monaco, Reginald S. Sauve, Todd D. Rozen, Gloria L. David, Darryl C. Zeldin, P. Syamasundar Rao, Anne M. Molloy, John M. Scott, Göksel Somay, Sultan Ayoub Meo, Joshua Fierer, Mark Berneburg, Thomas Schwarz, Jürgen Schölmerich, Anne Katrin Lampe, Kate Bushby, William J. Speake, John Simpson, Hope E. Uronis, Gerard C. Blobe, Diego Franco, Amelia Aránega, Eggert Stockfleth, Ingo Nindl, Christian Hamel, Felix G. Riepe, Erich C. Strauss, Vinzenz Oji, Heiko Traupe, Thomas Frieling, Andrea Cavani, Giampiero Girolomoni, Randolf Brehler, Ortrud K. Steinlein, Janet Y. Uriu-Adams, Jean-Charles Deybach, Hervé Puy, Michael L. S. Ma, Patrick T. S. Ma, Alexander A. C. Leung, Jolanta Wierzba, Angelo Selicorni, Yskert Von Kodolitsch, Wulf Ito, Nilanjana Maulik, Rainer Voisard, Hiroki Teragawa, Kazuaki Chayama, Renzo Guerrini, Carla Marini, Elena Parrini, Alexander Storch, Johannes Schwarz, Sonja Ständer, Kam-Lun Ellis Hon, Chiu-Wing Winnie Chu, Olaf A. Bodamer, Sylvia Stöckler-Ipsiroglu, Tatsuro Kondoh, Osamu Shimokawa, Naoki Harada, Hiroyuki Moriuchi, Karsten Schulmann, Christian Pox, Wolff Schmiegel, James E. Crowe, Nan Hatch, Mark Bothwell, Holger S. Willenberg, Stefan R. Bornstein, Zsolt Urban, Francesco Borgia, Fabrizio Guarneri, Mario Vaccaro, Dieter Metze, Karl Kunzelmann, Marcus Mall, Paul Cheung-Lung Choi, William A. Gahl, Thomas Knoll, Albrecht Hesse, and Michaela Jaksch

Published
2009

29. Maternal Uniparental Disomy for Chromosome 7

Author

Mark Oette, Marvin J. Stone, Hendrik P. N. Scholl, Peter Charbel Issa, Monika Fleckenstein, Steffen Schmitz-Valckenberg, Frank G. Holz, Olaf Strauss, Jörg-Dieter Schulzke, Michael Fromm, Tommie V. McCarthy, Meinhard Schiller, Stephan Grabbe, Cord Sunderkötter, Gidon Almogy, Avraham I. Rivkind, Hideaki Kato, John W. Finley, Johannes Uhl, Jürgen Kopitz, Michael Cantz, Philip F. Giampietro, Inga Harting, Nicole I. Wolf, Jürgen Grabbe, Robert J. Beynon, Rosaline C. M. Quinlivan, Caroline A. Sewry, Naoto Kuroda, Cengiz Korkmaz, Anthony J. Bleyer, Thomas C. Hart, Michele Bisceglia, Carlos Galliani, Stefan Pfister, Olaf Witt, Alexander K. C. Leung, Jan Hellemans, Geert Mortier, Marcus Schmitt, Markus Pfister, Hans-Peter Zenner, Markus J. Riemenschneider, Guido Reifenberger, Julian F. B. Mercer, Sharon La Fontaine, Ingrid Moll, Bruce C. Kone, Stephan vom Dahl, Peter E. H. Schwarz, Jiang Li, Volkmar Gieselmann, David Genevieve, Martine Le Merrer, John-John B. Schnog, Victor E. A. Gerdes, Katrin Beyer, Elardus Erasmus, Lodewyk J. Mienie, Jan Bubeník, Jana Šímová, Thorsten Buch, Ansgar Schulz, Irmgard Förster, Shirley Hodgson, Holger Sudhoff, Peter J. Goadsby, Karin Jurkat-Rott, Frank Lehmann-Horn, John Logan, Bernadette McGuinness, Maria Isabel Melaragno, Marcial Francis Galera, Hardally R. Hegde, Hannu Jalanko, Maria Judit Molnar, Danae Liolitsa, Charungthai Dejthevaporn, Michael G. Hanna, Josef Finsterer, Yu-ichi Goto, Lucia K. Ma, Patrick T. S. Ma, Toshio Nishikimi, Siobhan D. Ma, Andrew Rozelle, Eliza F. Chakravarty, Stefan R. Bornstein, Sven Schinner, Marinus Duran, William Lane M. Robson, Christine Liang, Julie V. Schaffer, Claudiu Plesa, Franck E. Nicolini, Eric Sibley, Vinzenz Oji, Heiko Traupe, Damian Miles Bailey, Heimo Mairbäurl, Peter Bärtsch, Alexander A. C. Leung, Justine H. S. Fong, Michael Beck, Silke Hofmann, Leena Bruckner-Tuderman, Dieter Metze, Riikka H. Hämäläinen, Anna-Elina Lehesjoki, Marita Lipsanen-Nyman, Constantine Stratakis, Francesca Marini, Alberto Falchetti, Maria Luisa Brandi, Christian A. Koch, Constantine A. Stratakis, Michael Briggs, Wim Wuyts, Filip Vanhoenacker, Wim Hul, Hayrettin Tumani, Kurt Von Figura, Thomas Dierks, Bernhard Schmidt, Luca Busetto, Giuliano Enzi, Thomas Klockgether, Ioannis Stefanidis, Georgios M. Hadjigeorgiou, Klaus Zerres, Sabine Rudnik-Schöneborn, Hans-Jürgen Gdynia, Anne-Dorte Sperfeld, Eric P. Hoffman, Rabah Ben Yaou, Gisèle Bonne, Dominique Récan-Budiartha, Peter Hackman, Bjarne Udd, Wolfgang Dietmaier, Arndt Hartmann, Dominique Prié, Caroline Silve, Bernard Grandchamp, Gérard Friedlander, Andrew G. Engel, Werner Kempf, Reinhard Dummer, Günter Burg, Daniela Cilloni, Giuseppe Saglio, Ulrich S. Schuler, Ulrike Bacher, Claudia Haferlach, Susanne Schnittger, Torsten Haferlach, Reginald S. Sauve, Deepak Kamat, Stephen N. Makoni, Richard L. Sabina, Benjamin D. Tyrrell, Justin A. Ezekowitz, Wolfgang Schillinger, Gerd Hasenfuss, Kevin M. Bonney, David M. Engman, Thomas Klopstock, Friedrich Asmus, Thomas Gasser, Dina J. Zand, Elaine H. Zackai, Frank Schaeffel, Anders Oldfors, Niklas Darin, Tommy Martinsson, Ursula Knirsch, Gisela Stoltenburg-Didinger, Olayinka Raheem, and Tiina Suominen

Published
2009

30. Congenital Sucrose Intolerance

Author

Nils Peters, Martin Dichgans, Sankar Surendran, Josep M. Argilés, Francisco J. López-Soriano, Sílvia Busquets, Klaus Dittmann, H. Peter Rodemann, Anca Sindrilaru, Cord Sunderkötter, Hiroshi Watanabe, Dan M. Roden, Giora Feuerstein, Robert Ruffolo, Ralph Knöll, Srijita Sen-Chowdhry, Deirdre Ward, William J. McKenna, Jens Mogensen, Mangala A. Nadkarni, F. Elizabeth Martin, Nicholas A. Jacques, Neil Hunter, Markus Böhm, Thomas A. Luger, Tilman Grune, Nicola Longo, Cristina Amat Di San Filippo, Elisabeth L. Schwarz, Marzia Pasquali, Elardus Erasmus, Lodewyk J. Mienie, Marcus Deschauer, Stephan Zierz, Du Toit Loots, Lee A. Denson, Helen C. Su, Michael J. Lenardo, Heather E. McDermid, Graeme Eisenhofer, Oscar De La Calle-Martin, Natalia Casamitjana, Cristina Woellner, Bodo Grimbacher, Detlef Schuppan, Walter Lisch, Berthold Seitz, Andreas Janecke, Tommie V. McCarthy, Carina Wallgren-Pettersson, Joost Haan, Michael T. Wunderlich, Nicole Revencu, Miikka Vikkula, Akira Honda, Seema R. Lalani, John W. Belmont, Julian Ilcheff Borissoff, Hugo Ten Cate, Takatoshi Kasai, Daniel Markovich, Michael Trauner, Carlo Selmi, M. Eric Gershwin, Malcolm A. Lyons, Kirk J. Maurer, Martin C. Carey, Frank Lammert, Tilman Sauerbruch, Peter L. M. Jansen, Holger Sudhoff, Stephan Vom Dahl, Detlev Ameis, Muhammad Faiyaz-Ul-Haque, Syed Hassan Ejaz Zaidi, Caroline Silve, Piero Pavone, Rosario Rich Trifiletti, Friedrich Asmus, Petra Weckerle, Gesa Schwanitz, Barbara Busert, Tanya Thiagarajah, Walter Muir, Ben Pickard, Anthony J. Cleare, Hubert Scharnagl, Winfried März, Ralf Kubitz, Dieter Häussinger, Norbert Schwenzer, Alexander K. C. Leung, William Lane M. Robson, Andrew L. Wong, Yener Güzelcan, Francesco Trotta, Andrea Lo Monaco, Reginald S. Sauve, Todd D. Rozen, Gloria L. David, Darryl C. Zeldin, P. Syamasundar Rao, Anne M. Molloy, John M. Scott, Göksel Somay, Sultan Ayoub Meo, Joshua Fierer, Mark Berneburg, Thomas Schwarz, Jürgen Schölmerich, Anne Katrin Lampe, Kate Bushby, William J. Speake, John Simpson, Hope E. Uronis, Gerard C. Blobe, Diego Franco, Amelia Aránega, Eggert Stockfleth, Ingo Nindl, Christian Hamel, Felix G. Riepe, Erich C. Strauss, Vinzenz Oji, Heiko Traupe, Thomas Frieling, Andrea Cavani, Giampiero Girolomoni, Randolf Brehler, Ortrud K. Steinlein, Janet Y. Uriu-Adams, Jean-Charles Deybach, Hervé Puy, Michael L. S. Ma, Patrick T. S. Ma, Alexander A. C. Leung, Jolanta Wierzba, Angelo Selicorni, Yskert Von Kodolitsch, Wulf Ito, Nilanjana Maulik, Rainer Voisard, Hiroki Teragawa, Kazuaki Chayama, Renzo Guerrini, Carla Marini, Elena Parrini, Alexander Storch, Johannes Schwarz, Sonja Ständer, Kam-Lun Ellis Hon, Chiu-Wing Winnie Chu, Olaf A. Bodamer, Sylvia Stöckler-Ipsiroglu, Tatsuro Kondoh, Osamu Shimokawa, Naoki Harada, Hiroyuki Moriuchi, Karsten Schulmann, Christian Pox, Wolff Schmiegel, James E. Crowe, Nan Hatch, Mark Bothwell, Holger S. Willenberg, Stefan R. Bornstein, Zsolt Urban, Francesco Borgia, Fabrizio Guarneri, Mario Vaccaro, Dieter Metze, Karl Kunzelmann, Marcus Mall, Paul Cheung-Lung Choi, William A. Gahl, Thomas Knoll, Albrecht Hesse, and Michaela Jaksch

Published
2009

31. Multiple Risk Factor Syndrome

Author

Mark Oette, Marvin J. Stone, Hendrik P. N. Scholl, Peter Charbel Issa, Monika Fleckenstein, Steffen Schmitz-Valckenberg, Frank G. Holz, Olaf Strauss, Jörg-Dieter Schulzke, Michael Fromm, Tommie V. McCarthy, Meinhard Schiller, Stephan Grabbe, Cord Sunderkötter, Gidon Almogy, Avraham I. Rivkind, Hideaki Kato, John W. Finley, Johannes Uhl, Jürgen Kopitz, Michael Cantz, Philip F. Giampietro, Inga Harting, Nicole I. Wolf, Jürgen Grabbe, Robert J. Beynon, Rosaline C. M. Quinlivan, Caroline A. Sewry, Naoto Kuroda, Cengiz Korkmaz, Anthony J. Bleyer, Thomas C. Hart, Michele Bisceglia, Carlos Galliani, Stefan Pfister, Olaf Witt, Alexander K. C. Leung, Jan Hellemans, Geert Mortier, Marcus Schmitt, Markus Pfister, Hans-Peter Zenner, Markus J. Riemenschneider, Guido Reifenberger, Julian F. B. Mercer, Sharon La Fontaine, Ingrid Moll, Bruce C. Kone, Stephan vom Dahl, Peter E. H. Schwarz, Jiang Li, Volkmar Gieselmann, David Genevieve, Martine Le Merrer, John-John B. Schnog, Victor E. A. Gerdes, Katrin Beyer, Elardus Erasmus, Lodewyk J. Mienie, Jan Bubeník, Jana Šímová, Thorsten Buch, Ansgar Schulz, Irmgard Förster, Shirley Hodgson, Holger Sudhoff, Peter J. Goadsby, Karin Jurkat-Rott, Frank Lehmann-Horn, John Logan, Bernadette McGuinness, Maria Isabel Melaragno, Marcial Francis Galera, Hardally R. Hegde, Hannu Jalanko, Maria Judit Molnar, Danae Liolitsa, Charungthai Dejthevaporn, Michael G. Hanna, Josef Finsterer, Yu-ichi Goto, Lucia K. Ma, Patrick T. S. Ma, Toshio Nishikimi, Siobhan D. Ma, Andrew Rozelle, Eliza F. Chakravarty, Stefan R. Bornstein, Sven Schinner, Marinus Duran, William Lane M. Robson, Christine Liang, Julie V. Schaffer, Claudiu Plesa, Franck E. Nicolini, Eric Sibley, Vinzenz Oji, Heiko Traupe, Damian Miles Bailey, Heimo Mairbäurl, Peter Bärtsch, Alexander A. C. Leung, Justine H. S. Fong, Michael Beck, Silke Hofmann, Leena Bruckner-Tuderman, Dieter Metze, Riikka H. Hämäläinen, Anna-Elina Lehesjoki, Marita Lipsanen-Nyman, Constantine Stratakis, Francesca Marini, Alberto Falchetti, Maria Luisa Brandi, Christian A. Koch, Constantine A. Stratakis, Michael Briggs, Wim Wuyts, Filip Vanhoenacker, Wim Hul, Hayrettin Tumani, Kurt Von Figura, Thomas Dierks, Bernhard Schmidt, Luca Busetto, Giuliano Enzi, Thomas Klockgether, Ioannis Stefanidis, Georgios M. Hadjigeorgiou, Klaus Zerres, Sabine Rudnik-Schöneborn, Hans-Jürgen Gdynia, Anne-Dorte Sperfeld, Eric P. Hoffman, Rabah Ben Yaou, Gisèle Bonne, Dominique Récan-Budiartha, Peter Hackman, Bjarne Udd, Wolfgang Dietmaier, Arndt Hartmann, Dominique Prié, Caroline Silve, Bernard Grandchamp, Gérard Friedlander, Andrew G. Engel, Werner Kempf, Reinhard Dummer, Günter Burg, Daniela Cilloni, Giuseppe Saglio, Ulrich S. Schuler, Ulrike Bacher, Claudia Haferlach, Susanne Schnittger, Torsten Haferlach, Reginald S. Sauve, Deepak Kamat, Stephen N. Makoni, Richard L. Sabina, Benjamin D. Tyrrell, Justin A. Ezekowitz, Wolfgang Schillinger, Gerd Hasenfuss, Kevin M. Bonney, David M. Engman, Thomas Klopstock, Friedrich Asmus, Thomas Gasser, Dina J. Zand, Elaine H. Zackai, Frank Schaeffel, Anders Oldfors, Niklas Darin, Tommy Martinsson, Ursula Knirsch, Gisela Stoltenburg-Didinger, Olayinka Raheem, and Tiina Suominen

Published
2009

32. Congenital Generalized Fibromatosis

Author

Nils Peters, Martin Dichgans, Sankar Surendran, Josep M. Argilés, Francisco J. López-Soriano, Sílvia Busquets, Klaus Dittmann, H. Peter Rodemann, Anca Sindrilaru, Cord Sunderkötter, Hiroshi Watanabe, Dan M. Roden, Giora Feuerstein, Robert Ruffolo, Ralph Knöll, Srijita Sen-Chowdhry, Deirdre Ward, William J. McKenna, Jens Mogensen, Mangala A. Nadkarni, F. Elizabeth Martin, Nicholas A. Jacques, Neil Hunter, Markus Böhm, Thomas A. Luger, Tilman Grune, Nicola Longo, Cristina Amat Di San Filippo, Elisabeth L. Schwarz, Marzia Pasquali, Elardus Erasmus, Lodewyk J. Mienie, Marcus Deschauer, Stephan Zierz, Du Toit Loots, Lee A. Denson, Helen C. Su, Michael J. Lenardo, Heather E. McDermid, Graeme Eisenhofer, Oscar De La Calle-Martin, Natalia Casamitjana, Cristina Woellner, Bodo Grimbacher, Detlef Schuppan, Walter Lisch, Berthold Seitz, Andreas Janecke, Tommie V. McCarthy, Carina Wallgren-Pettersson, Joost Haan, Michael T. Wunderlich, Nicole Revencu, Miikka Vikkula, Akira Honda, Seema R. Lalani, John W. Belmont, Julian Ilcheff Borissoff, Hugo Ten Cate, Takatoshi Kasai, Daniel Markovich, Michael Trauner, Carlo Selmi, M. Eric Gershwin, Malcolm A. Lyons, Kirk J. Maurer, Martin C. Carey, Frank Lammert, Tilman Sauerbruch, Peter L. M. Jansen, Holger Sudhoff, Stephan Vom Dahl, Detlev Ameis, Muhammad Faiyaz-Ul-Haque, Syed Hassan Ejaz Zaidi, Caroline Silve, Piero Pavone, Rosario Rich Trifiletti, Friedrich Asmus, Petra Weckerle, Gesa Schwanitz, Barbara Busert, Tanya Thiagarajah, Walter Muir, Ben Pickard, Anthony J. Cleare, Hubert Scharnagl, Winfried März, Ralf Kubitz, Dieter Häussinger, Norbert Schwenzer, Alexander K. C. Leung, William Lane M. Robson, Andrew L. Wong, Yener Güzelcan, Francesco Trotta, Andrea Lo Monaco, Reginald S. Sauve, Todd D. Rozen, Gloria L. David, Darryl C. Zeldin, P. Syamasundar Rao, Anne M. Molloy, John M. Scott, Göksel Somay, Sultan Ayoub Meo, Joshua Fierer, Mark Berneburg, Thomas Schwarz, Jürgen Schölmerich, Anne Katrin Lampe, Kate Bushby, William J. Speake, John Simpson, Hope E. Uronis, Gerard C. Blobe, Diego Franco, Amelia Aránega, Eggert Stockfleth, Ingo Nindl, Christian Hamel, Felix G. Riepe, Erich C. Strauss, Vinzenz Oji, Heiko Traupe, Thomas Frieling, Andrea Cavani, Giampiero Girolomoni, Randolf Brehler, Ortrud K. Steinlein, Janet Y. Uriu-Adams, Jean-Charles Deybach, Hervé Puy, Michael L. S. Ma, Patrick T. S. Ma, Alexander A. C. Leung, Jolanta Wierzba, Angelo Selicorni, Yskert Von Kodolitsch, Wulf Ito, Nilanjana Maulik, Rainer Voisard, Hiroki Teragawa, Kazuaki Chayama, Renzo Guerrini, Carla Marini, Elena Parrini, Alexander Storch, Johannes Schwarz, Sonja Ständer, Kam-Lun Ellis Hon, Chiu-Wing Winnie Chu, Olaf A. Bodamer, Sylvia Stöckler-Ipsiroglu, Tatsuro Kondoh, Osamu Shimokawa, Naoki Harada, Hiroyuki Moriuchi, Karsten Schulmann, Christian Pox, Wolff Schmiegel, James E. Crowe, Nan Hatch, Mark Bothwell, Holger S. Willenberg, Stefan R. Bornstein, Zsolt Urban, Francesco Borgia, Fabrizio Guarneri, Mario Vaccaro, Dieter Metze, Karl Kunzelmann, Marcus Mall, Paul Cheung-Lung Choi, William A. Gahl, Thomas Knoll, Albrecht Hesse, and Michaela Jaksch

Published
2009

33. Myocarditis, Autoimmune

Author

Mark Oette, Marvin J. Stone, Hendrik P. N. Scholl, Peter Charbel Issa, Monika Fleckenstein, Steffen Schmitz-Valckenberg, Frank G. Holz, Olaf Strauss, Jörg-Dieter Schulzke, Michael Fromm, Tommie V. McCarthy, Meinhard Schiller, Stephan Grabbe, Cord Sunderkötter, Gidon Almogy, Avraham I. Rivkind, Hideaki Kato, John W. Finley, Johannes Uhl, Jürgen Kopitz, Michael Cantz, Philip F. Giampietro, Inga Harting, Nicole I. Wolf, Jürgen Grabbe, Robert J. Beynon, Rosaline C. M. Quinlivan, Caroline A. Sewry, Naoto Kuroda, Cengiz Korkmaz, Anthony J. Bleyer, Thomas C. Hart, Michele Bisceglia, Carlos Galliani, Stefan Pfister, Olaf Witt, Alexander K. C. Leung, Jan Hellemans, Geert Mortier, Marcus Schmitt, Markus Pfister, Hans-Peter Zenner, Markus J. Riemenschneider, Guido Reifenberger, Julian F. B. Mercer, Sharon La Fontaine, Ingrid Moll, Bruce C. Kone, Stephan vom Dahl, Peter E. H. Schwarz, Jiang Li, Volkmar Gieselmann, David Genevieve, Martine Le Merrer, John-John B. Schnog, Victor E. A. Gerdes, Katrin Beyer, Elardus Erasmus, Lodewyk J. Mienie, Jan Bubeník, Jana Šímová, Thorsten Buch, Ansgar Schulz, Irmgard Förster, Shirley Hodgson, Holger Sudhoff, Peter J. Goadsby, Karin Jurkat-Rott, Frank Lehmann-Horn, John Logan, Bernadette McGuinness, Maria Isabel Melaragno, Marcial Francis Galera, Hardally R. Hegde, Hannu Jalanko, Maria Judit Molnar, Danae Liolitsa, Charungthai Dejthevaporn, Michael G. Hanna, Josef Finsterer, Yu-ichi Goto, Lucia K. Ma, Patrick T. S. Ma, Toshio Nishikimi, Siobhan D. Ma, Andrew Rozelle, Eliza F. Chakravarty, Stefan R. Bornstein, Sven Schinner, Marinus Duran, William Lane M. Robson, Christine Liang, Julie V. Schaffer, Claudiu Plesa, Franck E. Nicolini, Eric Sibley, Vinzenz Oji, Heiko Traupe, Damian Miles Bailey, Heimo Mairbäurl, Peter Bärtsch, Alexander A. C. Leung, Justine H. S. Fong, Michael Beck, Silke Hofmann, Leena Bruckner-Tuderman, Dieter Metze, Riikka H. Hämäläinen, Anna-Elina Lehesjoki, Marita Lipsanen-Nyman, Constantine Stratakis, Francesca Marini, Alberto Falchetti, Maria Luisa Brandi, Christian A. Koch, Constantine A. Stratakis, Michael Briggs, Wim Wuyts, Filip Vanhoenacker, Wim Hul, Hayrettin Tumani, Kurt Von Figura, Thomas Dierks, Bernhard Schmidt, Luca Busetto, Giuliano Enzi, Thomas Klockgether, Ioannis Stefanidis, Georgios M. Hadjigeorgiou, Klaus Zerres, Sabine Rudnik-Schöneborn, Hans-Jürgen Gdynia, Anne-Dorte Sperfeld, Eric P. Hoffman, Rabah Ben Yaou, Gisèle Bonne, Dominique Récan-Budiartha, Peter Hackman, Bjarne Udd, Wolfgang Dietmaier, Arndt Hartmann, Dominique Prié, Caroline Silve, Bernard Grandchamp, Gérard Friedlander, Andrew G. Engel, Werner Kempf, Reinhard Dummer, Günter Burg, Daniela Cilloni, Giuseppe Saglio, Ulrich S. Schuler, Ulrike Bacher, Claudia Haferlach, Susanne Schnittger, Torsten Haferlach, Reginald S. Sauve, Deepak Kamat, Stephen N. Makoni, Richard L. Sabina, Benjamin D. Tyrrell, Justin A. Ezekowitz, Wolfgang Schillinger, Gerd Hasenfuss, Kevin M. Bonney, David M. Engman, Thomas Klopstock, Friedrich Asmus, Thomas Gasser, Dina J. Zand, Elaine H. Zackai, Frank Schaeffel, Anders Oldfors, Niklas Darin, Tommy Martinsson, Ursula Knirsch, Gisela Stoltenburg-Didinger, Olayinka Raheem, and Tiina Suominen

Published
2009

34. Myogastrointestinal Encephalomyopathy

Author

Mark Oette, Marvin J. Stone, Hendrik P. N. Scholl, Peter Charbel Issa, Monika Fleckenstein, Steffen Schmitz-Valckenberg, Frank G. Holz, Olaf Strauss, Jörg-Dieter Schulzke, Michael Fromm, Tommie V. McCarthy, Meinhard Schiller, Stephan Grabbe, Cord Sunderkötter, Gidon Almogy, Avraham I. Rivkind, Hideaki Kato, John W. Finley, Johannes Uhl, Jürgen Kopitz, Michael Cantz, Philip F. Giampietro, Inga Harting, Nicole I. Wolf, Jürgen Grabbe, Robert J. Beynon, Rosaline C. M. Quinlivan, Caroline A. Sewry, Naoto Kuroda, Cengiz Korkmaz, Anthony J. Bleyer, Thomas C. Hart, Michele Bisceglia, Carlos Galliani, Stefan Pfister, Olaf Witt, Alexander K. C. Leung, Jan Hellemans, Geert Mortier, Marcus Schmitt, Markus Pfister, Hans-Peter Zenner, Markus J. Riemenschneider, Guido Reifenberger, Julian F. B. Mercer, Sharon La Fontaine, Ingrid Moll, Bruce C. Kone, Stephan vom Dahl, Peter E. H. Schwarz, Jiang Li, Volkmar Gieselmann, David Genevieve, Martine Le Merrer, John-John B. Schnog, Victor E. A. Gerdes, Katrin Beyer, Elardus Erasmus, Lodewyk J. Mienie, Jan Bubeník, Jana Šímová, Thorsten Buch, Ansgar Schulz, Irmgard Förster, Shirley Hodgson, Holger Sudhoff, Peter J. Goadsby, Karin Jurkat-Rott, Frank Lehmann-Horn, John Logan, Bernadette McGuinness, Maria Isabel Melaragno, Marcial Francis Galera, Hardally R. Hegde, Hannu Jalanko, Maria Judit Molnar, Danae Liolitsa, Charungthai Dejthevaporn, Michael G. Hanna, Josef Finsterer, Yu-ichi Goto, Lucia K. Ma, Patrick T. S. Ma, Toshio Nishikimi, Siobhan D. Ma, Andrew Rozelle, Eliza F. Chakravarty, Stefan R. Bornstein, Sven Schinner, Marinus Duran, William Lane M. Robson, Christine Liang, Julie V. Schaffer, Claudiu Plesa, Franck E. Nicolini, Eric Sibley, Vinzenz Oji, Heiko Traupe, Damian Miles Bailey, Heimo Mairbäurl, Peter Bärtsch, Alexander A. C. Leung, Justine H. S. Fong, Michael Beck, Silke Hofmann, Leena Bruckner-Tuderman, Dieter Metze, Riikka H. Hämäläinen, Anna-Elina Lehesjoki, Marita Lipsanen-Nyman, Constantine Stratakis, Francesca Marini, Alberto Falchetti, Maria Luisa Brandi, Christian A. Koch, Constantine A. Stratakis, Michael Briggs, Wim Wuyts, Filip Vanhoenacker, Wim Hul, Hayrettin Tumani, Kurt Von Figura, Thomas Dierks, Bernhard Schmidt, Luca Busetto, Giuliano Enzi, Thomas Klockgether, Ioannis Stefanidis, Georgios M. Hadjigeorgiou, Klaus Zerres, Sabine Rudnik-Schöneborn, Hans-Jürgen Gdynia, Anne-Dorte Sperfeld, Eric P. Hoffman, Rabah Ben Yaou, Gisèle Bonne, Dominique Récan-Budiartha, Peter Hackman, Bjarne Udd, Wolfgang Dietmaier, Arndt Hartmann, Dominique Prié, Caroline Silve, Bernard Grandchamp, Gérard Friedlander, Andrew G. Engel, Werner Kempf, Reinhard Dummer, Günter Burg, Daniela Cilloni, Giuseppe Saglio, Ulrich S. Schuler, Ulrike Bacher, Claudia Haferlach, Susanne Schnittger, Torsten Haferlach, Reginald S. Sauve, Deepak Kamat, Stephen N. Makoni, Richard L. Sabina, Benjamin D. Tyrrell, Justin A. Ezekowitz, Wolfgang Schillinger, Gerd Hasenfuss, Kevin M. Bonney, David M. Engman, Thomas Klopstock, Friedrich Asmus, Thomas Gasser, Dina J. Zand, Elaine H. Zackai, Frank Schaeffel, Anders Oldfors, Niklas Darin, Tommy Martinsson, Ursula Knirsch, Gisela Stoltenburg-Didinger, Olayinka Raheem, and Tiina Suominen

Published
2009

35. 3-MGA-Type I

Author

Mark Oette, Marvin J. Stone, Hendrik P. N. Scholl, Peter Charbel Issa, Monika Fleckenstein, Steffen Schmitz-Valckenberg, Frank G. Holz, Olaf Strauss, Jörg-Dieter Schulzke, Michael Fromm, Tommie V. McCarthy, Meinhard Schiller, Stephan Grabbe, Cord Sunderkötter, Gidon Almogy, Avraham I. Rivkind, Hideaki Kato, John W. Finley, Johannes Uhl, Jürgen Kopitz, Michael Cantz, Philip F. Giampietro, Inga Harting, Nicole I. Wolf, Jürgen Grabbe, Robert J. Beynon, Rosaline C. M. Quinlivan, Caroline A. Sewry, Naoto Kuroda, Cengiz Korkmaz, Anthony J. Bleyer, Thomas C. Hart, Michele Bisceglia, Carlos Galliani, Stefan Pfister, Olaf Witt, Alexander K. C. Leung, Jan Hellemans, Geert Mortier, Marcus Schmitt, Markus Pfister, Hans-Peter Zenner, Markus J. Riemenschneider, Guido Reifenberger, Julian F. B. Mercer, Sharon La Fontaine, Ingrid Moll, Bruce C. Kone, Stephan vom Dahl, Peter E. H. Schwarz, Jiang Li, Volkmar Gieselmann, David Genevieve, Martine Le Merrer, John-John B. Schnog, Victor E. A. Gerdes, Katrin Beyer, Elardus Erasmus, Lodewyk J. Mienie, Jan Bubeník, Jana Šímová, Thorsten Buch, Ansgar Schulz, Irmgard Förster, Shirley Hodgson, Holger Sudhoff, Peter J. Goadsby, Karin Jurkat-Rott, Frank Lehmann-Horn, John Logan, Bernadette McGuinness, Maria Isabel Melaragno, Marcial Francis Galera, Hardally R. Hegde, Hannu Jalanko, Maria Judit Molnar, Danae Liolitsa, Charungthai Dejthevaporn, Michael G. Hanna, Josef Finsterer, Yu-ichi Goto, Lucia K. Ma, Patrick T. S. Ma, Toshio Nishikimi, Siobhan D. Ma, Andrew Rozelle, Eliza F. Chakravarty, Stefan R. Bornstein, Sven Schinner, Marinus Duran, William Lane M. Robson, Christine Liang, Julie V. Schaffer, Claudiu Plesa, Franck E. Nicolini, Eric Sibley, Vinzenz Oji, Heiko Traupe, Damian Miles Bailey, Heimo Mairbäurl, Peter Bärtsch, Alexander A. C. Leung, Justine H. S. Fong, Michael Beck, Silke Hofmann, Leena Bruckner-Tuderman, Dieter Metze, Riikka H. Hämäläinen, Anna-Elina Lehesjoki, Marita Lipsanen-Nyman, Constantine Stratakis, Francesca Marini, Alberto Falchetti, Maria Luisa Brandi, Christian A. Koch, Constantine A. Stratakis, Michael Briggs, Wim Wuyts, Filip Vanhoenacker, Wim Hul, Hayrettin Tumani, Kurt Von Figura, Thomas Dierks, Bernhard Schmidt, Luca Busetto, Giuliano Enzi, Thomas Klockgether, Ioannis Stefanidis, Georgios M. Hadjigeorgiou, Klaus Zerres, Sabine Rudnik-Schöneborn, Hans-Jürgen Gdynia, Anne-Dorte Sperfeld, Eric P. Hoffman, Rabah Ben Yaou, Gisèle Bonne, Dominique Récan-Budiartha, Peter Hackman, Bjarne Udd, Wolfgang Dietmaier, Arndt Hartmann, Dominique Prié, Caroline Silve, Bernard Grandchamp, Gérard Friedlander, Andrew G. Engel, Werner Kempf, Reinhard Dummer, Günter Burg, Daniela Cilloni, Giuseppe Saglio, Ulrich S. Schuler, Ulrike Bacher, Claudia Haferlach, Susanne Schnittger, Torsten Haferlach, Reginald S. Sauve, Deepak Kamat, Stephen N. Makoni, Richard L. Sabina, Benjamin D. Tyrrell, Justin A. Ezekowitz, Wolfgang Schillinger, Gerd Hasenfuss, Kevin M. Bonney, David M. Engman, Thomas Klopstock, Friedrich Asmus, Thomas Gasser, Dina J. Zand, Elaine H. Zackai, Frank Schaeffel, Anders Oldfors, Niklas Darin, Tommy Martinsson, Ursula Knirsch, Gisela Stoltenburg-Didinger, Olayinka Raheem, and Tiina Suominen

Published
2009

36. Morbus Reiter

Author

Mark Oette, Marvin J. Stone, Hendrik P. N. Scholl, Peter Charbel Issa, Monika Fleckenstein, Steffen Schmitz-Valckenberg, Frank G. Holz, Olaf Strauss, Jörg-Dieter Schulzke, Michael Fromm, Tommie V. McCarthy, Meinhard Schiller, Stephan Grabbe, Cord Sunderkötter, Gidon Almogy, Avraham I. Rivkind, Hideaki Kato, John W. Finley, Johannes Uhl, Jürgen Kopitz, Michael Cantz, Philip F. Giampietro, Inga Harting, Nicole I. Wolf, Jürgen Grabbe, Robert J. Beynon, Rosaline C. M. Quinlivan, Caroline A. Sewry, Naoto Kuroda, Cengiz Korkmaz, Anthony J. Bleyer, Thomas C. Hart, Michele Bisceglia, Carlos Galliani, Stefan Pfister, Olaf Witt, Alexander K. C. Leung, Jan Hellemans, Geert Mortier, Marcus Schmitt, Markus Pfister, Hans-Peter Zenner, Markus J. Riemenschneider, Guido Reifenberger, Julian F. B. Mercer, Sharon La Fontaine, Ingrid Moll, Bruce C. Kone, Stephan vom Dahl, Peter E. H. Schwarz, Jiang Li, Volkmar Gieselmann, David Genevieve, Martine Le Merrer, John-John B. Schnog, Victor E. A. Gerdes, Katrin Beyer, Elardus Erasmus, Lodewyk J. Mienie, Jan Bubeník, Jana Šímová, Thorsten Buch, Ansgar Schulz, Irmgard Förster, Shirley Hodgson, Holger Sudhoff, Peter J. Goadsby, Karin Jurkat-Rott, Frank Lehmann-Horn, John Logan, Bernadette McGuinness, Maria Isabel Melaragno, Marcial Francis Galera, Hardally R. Hegde, Hannu Jalanko, Maria Judit Molnar, Danae Liolitsa, Charungthai Dejthevaporn, Michael G. Hanna, Josef Finsterer, Yu-ichi Goto, Lucia K. Ma, Patrick T. S. Ma, Toshio Nishikimi, Siobhan D. Ma, Andrew Rozelle, Eliza F. Chakravarty, Stefan R. Bornstein, Sven Schinner, Marinus Duran, William Lane M. Robson, Christine Liang, Julie V. Schaffer, Claudiu Plesa, Franck E. Nicolini, Eric Sibley, Vinzenz Oji, Heiko Traupe, Damian Miles Bailey, Heimo Mairbäurl, Peter Bärtsch, Alexander A. C. Leung, Justine H. S. Fong, Michael Beck, Silke Hofmann, Leena Bruckner-Tuderman, Dieter Metze, Riikka H. Hämäläinen, Anna-Elina Lehesjoki, Marita Lipsanen-Nyman, Constantine Stratakis, Francesca Marini, Alberto Falchetti, Maria Luisa Brandi, Christian A. Koch, Constantine A. Stratakis, Michael Briggs, Wim Wuyts, Filip Vanhoenacker, Wim Hul, Hayrettin Tumani, Kurt Von Figura, Thomas Dierks, Bernhard Schmidt, Luca Busetto, Giuliano Enzi, Thomas Klockgether, Ioannis Stefanidis, Georgios M. Hadjigeorgiou, Klaus Zerres, Sabine Rudnik-Schöneborn, Hans-Jürgen Gdynia, Anne-Dorte Sperfeld, Eric P. Hoffman, Rabah Ben Yaou, Gisèle Bonne, Dominique Récan-Budiartha, Peter Hackman, Bjarne Udd, Wolfgang Dietmaier, Arndt Hartmann, Dominique Prié, Caroline Silve, Bernard Grandchamp, Gérard Friedlander, Andrew G. Engel, Werner Kempf, Reinhard Dummer, Günter Burg, Daniela Cilloni, Giuseppe Saglio, Ulrich S. Schuler, Ulrike Bacher, Claudia Haferlach, Susanne Schnittger, Torsten Haferlach, Reginald S. Sauve, Deepak Kamat, Stephen N. Makoni, Richard L. Sabina, Benjamin D. Tyrrell, Justin A. Ezekowitz, Wolfgang Schillinger, Gerd Hasenfuss, Kevin M. Bonney, David M. Engman, Thomas Klopstock, Friedrich Asmus, Thomas Gasser, Dina J. Zand, Elaine H. Zackai, Frank Schaeffel, Anders Oldfors, Niklas Darin, Tommy Martinsson, Ursula Knirsch, Gisela Stoltenburg-Didinger, Olayinka Raheem, and Tiina Suominen

Published
2009

37. Giant Cell Thyroiditis

Author

David J. Timson, Richard J. Reece, James B. Thoden, Hazel M. Holden, Andrea L. Utz, Beverly M. K. Biller, Eugen-Matthias Strehle, Markus Böhm, Thomas A. Luger, Alexander K. C. Leung, Andrew L. Wong, Markus G. Donner, Dieter Häussinger, Nirmal S. Mann, Marcus Schmitt, William Lane M. Robson, Manisha Balwani, Ainu Prakash-Cheng, Robert J. Desnick, Holger Lerche, Ingrid E. Scheffer, Samuel F. Berkovic, Brigitte M. Lobnig, Peter L. M. Jansen, Siegfried Waldegger, Florian Lang, Hugo ten Cate, Hagen Thieme, Michael Weller, Bärbel Schütte, Ronnie Fass, Hideki Kato, Masaomi Nangaku, Anthony Chang, Pradeep V. Kadambi, Jessy J. Alexander, Pierre Ronco, Hanna Debiec, Christian Hugo, John-John B. Schnog, Victor E. A. Gerdes, Jean Francis, David S. Geller, Knut Brockmann, Dong Wang, Darryl C. Vivo, Stefan Kölker, Elardus Erasmus, Lodewyk J. Mienie, John Vissing, Arnold Reuser, Catherine E. Correia, David A. Weinstein, Joseph I. Wolfsdorf, Yoon S. Shin, Reinout P. Hesselink, Maarten R. Drost, Anton J. M. Wagenmakers, Ger J. Vusse, Stefan Kiechl, Jonas Denecke, Ute Schepers, Thomas Kolter, Konrad Sandhoff, Dianna C. Martin, Barbara L. Triggs-Raine, Seda Sancak, Ralf Paschke, Dorin-Bogdan Borza, Sonja Ständer, Heiko Traupe, Michael A. Becker, Hanneke M. Straaten, Leo F. Verdonck, Hugo Ten Cate, Martin Mempel, Dietrich Abeck, Ismat Ghanem, Samer El Hage, Johannes G. Bode, Thomas A. Fleisher, Steven M. Holland, Bennett Myers, David Herrmann, Zaki Kraiem, Yaron Tomer, Terry F. Davies, James G. White, Sylvia Stöckler-Ipsiroglu, Guido Stoll, Klaus V. Toyka, Valéria Lamounier-Zepter, and Klaus Ruether

Published
2009

38. Common Variable Immunodeficiency

Author

Nils Peters, Martin Dichgans, Sankar Surendran, Josep M. Argilés, Francisco J. López-Soriano, Sílvia Busquets, Klaus Dittmann, H. Peter Rodemann, Anca Sindrilaru, Cord Sunderkötter, Hiroshi Watanabe, Dan M. Roden, Giora Feuerstein, Robert Ruffolo, Ralph Knöll, Srijita Sen-Chowdhry, Deirdre Ward, William J. McKenna, Jens Mogensen, Mangala A. Nadkarni, F. Elizabeth Martin, Nicholas A. Jacques, Neil Hunter, Markus Böhm, Thomas A. Luger, Tilman Grune, Nicola Longo, Cristina Amat Di San Filippo, Elisabeth L. Schwarz, Marzia Pasquali, Elardus Erasmus, Lodewyk J. Mienie, Marcus Deschauer, Stephan Zierz, Du Toit Loots, Lee A. Denson, Helen C. Su, Michael J. Lenardo, Heather E. McDermid, Graeme Eisenhofer, Oscar De La Calle-Martin, Natalia Casamitjana, Cristina Woellner, Bodo Grimbacher, Detlef Schuppan, Walter Lisch, Berthold Seitz, Andreas Janecke, Tommie V. McCarthy, Carina Wallgren-Pettersson, Joost Haan, Michael T. Wunderlich, Nicole Revencu, Miikka Vikkula, Akira Honda, Seema R. Lalani, John W. Belmont, Julian Ilcheff Borissoff, Hugo Ten Cate, Takatoshi Kasai, Daniel Markovich, Michael Trauner, Carlo Selmi, M. Eric Gershwin, Malcolm A. Lyons, Kirk J. Maurer, Martin C. Carey, Frank Lammert, Tilman Sauerbruch, Peter L. M. Jansen, Holger Sudhoff, Stephan Vom Dahl, Detlev Ameis, Muhammad Faiyaz-Ul-Haque, Syed Hassan Ejaz Zaidi, Caroline Silve, Piero Pavone, Rosario Rich Trifiletti, Friedrich Asmus, Petra Weckerle, Gesa Schwanitz, Barbara Busert, Tanya Thiagarajah, Walter Muir, Ben Pickard, Anthony J. Cleare, Hubert Scharnagl, Winfried März, Ralf Kubitz, Dieter Häussinger, Norbert Schwenzer, Alexander K. C. Leung, William Lane M. Robson, Andrew L. Wong, Yener Güzelcan, Francesco Trotta, Andrea Lo Monaco, Reginald S. Sauve, Todd D. Rozen, Gloria L. David, Darryl C. Zeldin, P. Syamasundar Rao, Anne M. Molloy, John M. Scott, Göksel Somay, Sultan Ayoub Meo, Joshua Fierer, Mark Berneburg, Thomas Schwarz, Jürgen Schölmerich, Anne Katrin Lampe, Kate Bushby, William J. Speake, John Simpson, Hope E. Uronis, Gerard C. Blobe, Diego Franco, Amelia Aránega, Eggert Stockfleth, Ingo Nindl, Christian Hamel, Felix G. Riepe, Erich C. Strauss, Vinzenz Oji, Heiko Traupe, Thomas Frieling, Andrea Cavani, Giampiero Girolomoni, Randolf Brehler, Ortrud K. Steinlein, Janet Y. Uriu-Adams, Jean-Charles Deybach, Hervé Puy, Michael L. S. Ma, Patrick T. S. Ma, Alexander A. C. Leung, Jolanta Wierzba, Angelo Selicorni, Yskert Von Kodolitsch, Wulf Ito, Nilanjana Maulik, Rainer Voisard, Hiroki Teragawa, Kazuaki Chayama, Renzo Guerrini, Carla Marini, Elena Parrini, Alexander Storch, Johannes Schwarz, Sonja Ständer, Kam-Lun Ellis Hon, Chiu-Wing Winnie Chu, Olaf A. Bodamer, Sylvia Stöckler-Ipsiroglu, Tatsuro Kondoh, Osamu Shimokawa, Naoki Harada, Hiroyuki Moriuchi, Karsten Schulmann, Christian Pox, Wolff Schmiegel, James E. Crowe, Nan Hatch, Mark Bothwell, Holger S. Willenberg, Stefan R. Bornstein, Zsolt Urban, Francesco Borgia, Fabrizio Guarneri, Mario Vaccaro, Dieter Metze, Karl Kunzelmann, Marcus Mall, Paul Cheung-Lung Choi, William A. Gahl, Thomas Knoll, Albrecht Hesse, and Michaela Jaksch

Published
2009

39. Glycogenosis Type IX

Author

David J. Timson, Richard J. Reece, James B. Thoden, Hazel M. Holden, Andrea L. Utz, Beverly M. K. Biller, Eugen-Matthias Strehle, Markus Böhm, Thomas A. Luger, Alexander K. C. Leung, Andrew L. Wong, Markus G. Donner, Dieter Häussinger, Nirmal S. Mann, Marcus Schmitt, William Lane M. Robson, Manisha Balwani, Ainu Prakash-Cheng, Robert J. Desnick, Holger Lerche, Ingrid E. Scheffer, Samuel F. Berkovic, Brigitte M. Lobnig, Peter L. M. Jansen, Siegfried Waldegger, Florian Lang, Hugo ten Cate, Hagen Thieme, Michael Weller, Bärbel Schütte, Ronnie Fass, Hideki Kato, Masaomi Nangaku, Anthony Chang, Pradeep V. Kadambi, Jessy J. Alexander, Pierre Ronco, Hanna Debiec, Christian Hugo, John-John B. Schnog, Victor E. A. Gerdes, Jean Francis, David S. Geller, Knut Brockmann, Dong Wang, Darryl C. Vivo, Stefan Kölker, Elardus Erasmus, Lodewyk J. Mienie, John Vissing, Arnold Reuser, Catherine E. Correia, David A. Weinstein, Joseph I. Wolfsdorf, Yoon S. Shin, Reinout P. Hesselink, Maarten R. Drost, Anton J. M. Wagenmakers, Ger J. Vusse, Stefan Kiechl, Jonas Denecke, Ute Schepers, Thomas Kolter, Konrad Sandhoff, Dianna C. Martin, Barbara L. Triggs-Raine, Seda Sancak, Ralf Paschke, Dorin-Bogdan Borza, Sonja Ständer, Heiko Traupe, Michael A. Becker, Hanneke M. Straaten, Leo F. Verdonck, Hugo Ten Cate, Martin Mempel, Dietrich Abeck, Ismat Ghanem, Samer El Hage, Johannes G. Bode, Thomas A. Fleisher, Steven M. Holland, Bennett Myers, David Herrmann, Zaki Kraiem, Yaron Tomer, Terry F. Davies, James G. White, Sylvia Stöckler-Ipsiroglu, Guido Stoll, Klaus V. Toyka, Valéria Lamounier-Zepter, and Klaus Ruether

Published
2009

40. Clefts of the Lip, Alveolus and Palate

Author

Nils Peters, Martin Dichgans, Sankar Surendran, Josep M. Argilés, Francisco J. López-Soriano, Sílvia Busquets, Klaus Dittmann, H. Peter Rodemann, Anca Sindrilaru, Cord Sunderkötter, Hiroshi Watanabe, Dan M. Roden, Giora Feuerstein, Robert Ruffolo, Ralph Knöll, Srijita Sen-Chowdhry, Deirdre Ward, William J. McKenna, Jens Mogensen, Mangala A. Nadkarni, F. Elizabeth Martin, Nicholas A. Jacques, Neil Hunter, Markus Böhm, Thomas A. Luger, Tilman Grune, Nicola Longo, Cristina Amat Di San Filippo, Elisabeth L. Schwarz, Marzia Pasquali, Elardus Erasmus, Lodewyk J. Mienie, Marcus Deschauer, Stephan Zierz, Du Toit Loots, Lee A. Denson, Helen C. Su, Michael J. Lenardo, Heather E. McDermid, Graeme Eisenhofer, Oscar De La Calle-Martin, Natalia Casamitjana, Cristina Woellner, Bodo Grimbacher, Detlef Schuppan, Walter Lisch, Berthold Seitz, Andreas Janecke, Tommie V. McCarthy, Carina Wallgren-Pettersson, Joost Haan, Michael T. Wunderlich, Nicole Revencu, Miikka Vikkula, Akira Honda, Seema R. Lalani, John W. Belmont, Julian Ilcheff Borissoff, Hugo Ten Cate, Takatoshi Kasai, Daniel Markovich, Michael Trauner, Carlo Selmi, M. Eric Gershwin, Malcolm A. Lyons, Kirk J. Maurer, Martin C. Carey, Frank Lammert, Tilman Sauerbruch, Peter L. M. Jansen, Holger Sudhoff, Stephan Vom Dahl, Detlev Ameis, Muhammad Faiyaz-Ul-Haque, Syed Hassan Ejaz Zaidi, Caroline Silve, Piero Pavone, Rosario Rich Trifiletti, Friedrich Asmus, Petra Weckerle, Gesa Schwanitz, Barbara Busert, Tanya Thiagarajah, Walter Muir, Ben Pickard, Anthony J. Cleare, Hubert Scharnagl, Winfried März, Ralf Kubitz, Dieter Häussinger, Norbert Schwenzer, Alexander K. C. Leung, William Lane M. Robson, Andrew L. Wong, Yener Güzelcan, Francesco Trotta, Andrea Lo Monaco, Reginald S. Sauve, Todd D. Rozen, Gloria L. David, Darryl C. Zeldin, P. Syamasundar Rao, Anne M. Molloy, John M. Scott, Göksel Somay, Sultan Ayoub Meo, Joshua Fierer, Mark Berneburg, Thomas Schwarz, Jürgen Schölmerich, Anne Katrin Lampe, Kate Bushby, William J. Speake, John Simpson, Hope E. Uronis, Gerard C. Blobe, Diego Franco, Amelia Aránega, Eggert Stockfleth, Ingo Nindl, Christian Hamel, Felix G. Riepe, Erich C. Strauss, Vinzenz Oji, Heiko Traupe, Thomas Frieling, Andrea Cavani, Giampiero Girolomoni, Randolf Brehler, Ortrud K. Steinlein, Janet Y. Uriu-Adams, Jean-Charles Deybach, Hervé Puy, Michael L. S. Ma, Patrick T. S. Ma, Alexander A. C. Leung, Jolanta Wierzba, Angelo Selicorni, Yskert Von Kodolitsch, Wulf Ito, Nilanjana Maulik, Rainer Voisard, Hiroki Teragawa, Kazuaki Chayama, Renzo Guerrini, Carla Marini, Elena Parrini, Alexander Storch, Johannes Schwarz, Sonja Ständer, Kam-Lun Ellis Hon, Chiu-Wing Winnie Chu, Olaf A. Bodamer, Sylvia Stöckler-Ipsiroglu, Tatsuro Kondoh, Osamu Shimokawa, Naoki Harada, Hiroyuki Moriuchi, Karsten Schulmann, Christian Pox, Wolff Schmiegel, James E. Crowe, Nan Hatch, Mark Bothwell, Holger S. Willenberg, Stefan R. Bornstein, Zsolt Urban, Francesco Borgia, Fabrizio Guarneri, Mario Vaccaro, Dieter Metze, Karl Kunzelmann, Marcus Mall, Paul Cheung-Lung Choi, William A. Gahl, Thomas Knoll, Albrecht Hesse, and Michaela Jaksch

Published
2009

41. Miller-Dieker Syndrome

Author

Mark Oette, Marvin J. Stone, Hendrik P. N. Scholl, Peter Charbel Issa, Monika Fleckenstein, Steffen Schmitz-Valckenberg, Frank G. Holz, Olaf Strauss, Jörg-Dieter Schulzke, Michael Fromm, Tommie V. McCarthy, Meinhard Schiller, Stephan Grabbe, Cord Sunderkötter, Gidon Almogy, Avraham I. Rivkind, Hideaki Kato, John W. Finley, Johannes Uhl, Jürgen Kopitz, Michael Cantz, Philip F. Giampietro, Inga Harting, Nicole I. Wolf, Jürgen Grabbe, Robert J. Beynon, Rosaline C. M. Quinlivan, Caroline A. Sewry, Naoto Kuroda, Cengiz Korkmaz, Anthony J. Bleyer, Thomas C. Hart, Michele Bisceglia, Carlos Galliani, Stefan Pfister, Olaf Witt, Alexander K. C. Leung, Jan Hellemans, Geert Mortier, Marcus Schmitt, Markus Pfister, Hans-Peter Zenner, Markus J. Riemenschneider, Guido Reifenberger, Julian F. B. Mercer, Sharon La Fontaine, Ingrid Moll, Bruce C. Kone, Stephan vom Dahl, Peter E. H. Schwarz, Jiang Li, Volkmar Gieselmann, David Genevieve, Martine Le Merrer, John-John B. Schnog, Victor E. A. Gerdes, Katrin Beyer, Elardus Erasmus, Lodewyk J. Mienie, Jan Bubeník, Jana Šímová, Thorsten Buch, Ansgar Schulz, Irmgard Förster, Shirley Hodgson, Holger Sudhoff, Peter J. Goadsby, Karin Jurkat-Rott, Frank Lehmann-Horn, John Logan, Bernadette McGuinness, Maria Isabel Melaragno, Marcial Francis Galera, Hardally R. Hegde, Hannu Jalanko, Maria Judit Molnar, Danae Liolitsa, Charungthai Dejthevaporn, Michael G. Hanna, Josef Finsterer, Yu-ichi Goto, Lucia K. Ma, Patrick T. S. Ma, Toshio Nishikimi, Siobhan D. Ma, Andrew Rozelle, Eliza F. Chakravarty, Stefan R. Bornstein, Sven Schinner, Marinus Duran, William Lane M. Robson, Christine Liang, Julie V. Schaffer, Claudiu Plesa, Franck E. Nicolini, Eric Sibley, Vinzenz Oji, Heiko Traupe, Damian Miles Bailey, Heimo Mairbäurl, Peter Bärtsch, Alexander A. C. Leung, Justine H. S. Fong, Michael Beck, Silke Hofmann, Leena Bruckner-Tuderman, Dieter Metze, Riikka H. Hämäläinen, Anna-Elina Lehesjoki, Marita Lipsanen-Nyman, Constantine Stratakis, Francesca Marini, Alberto Falchetti, Maria Luisa Brandi, Christian A. Koch, Constantine A. Stratakis, Michael Briggs, Wim Wuyts, Filip Vanhoenacker, Wim Hul, Hayrettin Tumani, Kurt Von Figura, Thomas Dierks, Bernhard Schmidt, Luca Busetto, Giuliano Enzi, Thomas Klockgether, Ioannis Stefanidis, Georgios M. Hadjigeorgiou, Klaus Zerres, Sabine Rudnik-Schöneborn, Hans-Jürgen Gdynia, Anne-Dorte Sperfeld, Eric P. Hoffman, Rabah Ben Yaou, Gisèle Bonne, Dominique Récan-Budiartha, Peter Hackman, Bjarne Udd, Wolfgang Dietmaier, Arndt Hartmann, Dominique Prié, Caroline Silve, Bernard Grandchamp, Gérard Friedlander, Andrew G. Engel, Werner Kempf, Reinhard Dummer, Günter Burg, Daniela Cilloni, Giuseppe Saglio, Ulrich S. Schuler, Ulrike Bacher, Claudia Haferlach, Susanne Schnittger, Torsten Haferlach, Reginald S. Sauve, Deepak Kamat, Stephen N. Makoni, Richard L. Sabina, Benjamin D. Tyrrell, Justin A. Ezekowitz, Wolfgang Schillinger, Gerd Hasenfuss, Kevin M. Bonney, David M. Engman, Thomas Klopstock, Friedrich Asmus, Thomas Gasser, Dina J. Zand, Elaine H. Zackai, Frank Schaeffel, Anders Oldfors, Niklas Darin, Tommy Martinsson, Ursula Knirsch, Gisela Stoltenburg-Didinger, Olayinka Raheem, and Tiina Suominen

Published
2009

42. Mortimer’s Malady

Author

Mark Oette, Marvin J. Stone, Hendrik P. N. Scholl, Peter Charbel Issa, Monika Fleckenstein, Steffen Schmitz-Valckenberg, Frank G. Holz, Olaf Strauss, Jörg-Dieter Schulzke, Michael Fromm, Tommie V. McCarthy, Meinhard Schiller, Stephan Grabbe, Cord Sunderkötter, Gidon Almogy, Avraham I. Rivkind, Hideaki Kato, John W. Finley, Johannes Uhl, Jürgen Kopitz, Michael Cantz, Philip F. Giampietro, Inga Harting, Nicole I. Wolf, Jürgen Grabbe, Robert J. Beynon, Rosaline C. M. Quinlivan, Caroline A. Sewry, Naoto Kuroda, Cengiz Korkmaz, Anthony J. Bleyer, Thomas C. Hart, Michele Bisceglia, Carlos Galliani, Stefan Pfister, Olaf Witt, Alexander K. C. Leung, Jan Hellemans, Geert Mortier, Marcus Schmitt, Markus Pfister, Hans-Peter Zenner, Markus J. Riemenschneider, Guido Reifenberger, Julian F. B. Mercer, Sharon La Fontaine, Ingrid Moll, Bruce C. Kone, Stephan vom Dahl, Peter E. H. Schwarz, Jiang Li, Volkmar Gieselmann, David Genevieve, Martine Le Merrer, John-John B. Schnog, Victor E. A. Gerdes, Katrin Beyer, Elardus Erasmus, Lodewyk J. Mienie, Jan Bubeník, Jana Šímová, Thorsten Buch, Ansgar Schulz, Irmgard Förster, Shirley Hodgson, Holger Sudhoff, Peter J. Goadsby, Karin Jurkat-Rott, Frank Lehmann-Horn, John Logan, Bernadette McGuinness, Maria Isabel Melaragno, Marcial Francis Galera, Hardally R. Hegde, Hannu Jalanko, Maria Judit Molnar, Danae Liolitsa, Charungthai Dejthevaporn, Michael G. Hanna, Josef Finsterer, Yu-ichi Goto, Lucia K. Ma, Patrick T. S. Ma, Toshio Nishikimi, Siobhan D. Ma, Andrew Rozelle, Eliza F. Chakravarty, Stefan R. Bornstein, Sven Schinner, Marinus Duran, William Lane M. Robson, Christine Liang, Julie V. Schaffer, Claudiu Plesa, Franck E. Nicolini, Eric Sibley, Vinzenz Oji, Heiko Traupe, Damian Miles Bailey, Heimo Mairbäurl, Peter Bärtsch, Alexander A. C. Leung, Justine H. S. Fong, Michael Beck, Silke Hofmann, Leena Bruckner-Tuderman, Dieter Metze, Riikka H. Hämäläinen, Anna-Elina Lehesjoki, Marita Lipsanen-Nyman, Constantine Stratakis, Francesca Marini, Alberto Falchetti, Maria Luisa Brandi, Christian A. Koch, Constantine A. Stratakis, Michael Briggs, Wim Wuyts, Filip Vanhoenacker, Wim Hul, Hayrettin Tumani, Kurt Von Figura, Thomas Dierks, Bernhard Schmidt, Luca Busetto, Giuliano Enzi, Thomas Klockgether, Ioannis Stefanidis, Georgios M. Hadjigeorgiou, Klaus Zerres, Sabine Rudnik-Schöneborn, Hans-Jürgen Gdynia, Anne-Dorte Sperfeld, Eric P. Hoffman, Rabah Ben Yaou, Gisèle Bonne, Dominique Récan-Budiartha, Peter Hackman, Bjarne Udd, Wolfgang Dietmaier, Arndt Hartmann, Dominique Prié, Caroline Silve, Bernard Grandchamp, Gérard Friedlander, Andrew G. Engel, Werner Kempf, Reinhard Dummer, Günter Burg, Daniela Cilloni, Giuseppe Saglio, Ulrich S. Schuler, Ulrike Bacher, Claudia Haferlach, Susanne Schnittger, Torsten Haferlach, Reginald S. Sauve, Deepak Kamat, Stephen N. Makoni, Richard L. Sabina, Benjamin D. Tyrrell, Justin A. Ezekowitz, Wolfgang Schillinger, Gerd Hasenfuss, Kevin M. Bonney, David M. Engman, Thomas Klopstock, Friedrich Asmus, Thomas Gasser, Dina J. Zand, Elaine H. Zackai, Frank Schaeffel, Anders Oldfors, Niklas Darin, Tommy Martinsson, Ursula Knirsch, Gisela Stoltenburg-Didinger, Olayinka Raheem, and Tiina Suominen

Published
2009

43. MGN

Author

Mark Oette, Marvin J. Stone, Hendrik P. N. Scholl, Peter Charbel Issa, Monika Fleckenstein, Steffen Schmitz-Valckenberg, Frank G. Holz, Olaf Strauss, Jörg-Dieter Schulzke, Michael Fromm, Tommie V. McCarthy, Meinhard Schiller, Stephan Grabbe, Cord Sunderkötter, Gidon Almogy, Avraham I. Rivkind, Hideaki Kato, John W. Finley, Johannes Uhl, Jürgen Kopitz, Michael Cantz, Philip F. Giampietro, Inga Harting, Nicole I. Wolf, Jürgen Grabbe, Robert J. Beynon, Rosaline C. M. Quinlivan, Caroline A. Sewry, Naoto Kuroda, Cengiz Korkmaz, Anthony J. Bleyer, Thomas C. Hart, Michele Bisceglia, Carlos Galliani, Stefan Pfister, Olaf Witt, Alexander K. C. Leung, Jan Hellemans, Geert Mortier, Marcus Schmitt, Markus Pfister, Hans-Peter Zenner, Markus J. Riemenschneider, Guido Reifenberger, Julian F. B. Mercer, Sharon La Fontaine, Ingrid Moll, Bruce C. Kone, Stephan vom Dahl, Peter E. H. Schwarz, Jiang Li, Volkmar Gieselmann, David Genevieve, Martine Le Merrer, John-John B. Schnog, Victor E. A. Gerdes, Katrin Beyer, Elardus Erasmus, Lodewyk J. Mienie, Jan Bubeník, Jana Šímová, Thorsten Buch, Ansgar Schulz, Irmgard Förster, Shirley Hodgson, Holger Sudhoff, Peter J. Goadsby, Karin Jurkat-Rott, Frank Lehmann-Horn, John Logan, Bernadette McGuinness, Maria Isabel Melaragno, Marcial Francis Galera, Hardally R. Hegde, Hannu Jalanko, Maria Judit Molnar, Danae Liolitsa, Charungthai Dejthevaporn, Michael G. Hanna, Josef Finsterer, Yu-ichi Goto, Lucia K. Ma, Patrick T. S. Ma, Toshio Nishikimi, Siobhan D. Ma, Andrew Rozelle, Eliza F. Chakravarty, Stefan R. Bornstein, Sven Schinner, Marinus Duran, William Lane M. Robson, Christine Liang, Julie V. Schaffer, Claudiu Plesa, Franck E. Nicolini, Eric Sibley, Vinzenz Oji, Heiko Traupe, Damian Miles Bailey, Heimo Mairbäurl, Peter Bärtsch, Alexander A. C. Leung, Justine H. S. Fong, Michael Beck, Silke Hofmann, Leena Bruckner-Tuderman, Dieter Metze, Riikka H. Hämäläinen, Anna-Elina Lehesjoki, Marita Lipsanen-Nyman, Constantine Stratakis, Francesca Marini, Alberto Falchetti, Maria Luisa Brandi, Christian A. Koch, Constantine A. Stratakis, Michael Briggs, Wim Wuyts, Filip Vanhoenacker, Wim Hul, Hayrettin Tumani, Kurt Von Figura, Thomas Dierks, Bernhard Schmidt, Luca Busetto, Giuliano Enzi, Thomas Klockgether, Ioannis Stefanidis, Georgios M. Hadjigeorgiou, Klaus Zerres, Sabine Rudnik-Schöneborn, Hans-Jürgen Gdynia, Anne-Dorte Sperfeld, Eric P. Hoffman, Rabah Ben Yaou, Gisèle Bonne, Dominique Récan-Budiartha, Peter Hackman, Bjarne Udd, Wolfgang Dietmaier, Arndt Hartmann, Dominique Prié, Caroline Silve, Bernard Grandchamp, Gérard Friedlander, Andrew G. Engel, Werner Kempf, Reinhard Dummer, Günter Burg, Daniela Cilloni, Giuseppe Saglio, Ulrich S. Schuler, Ulrike Bacher, Claudia Haferlach, Susanne Schnittger, Torsten Haferlach, Reginald S. Sauve, Deepak Kamat, Stephen N. Makoni, Richard L. Sabina, Benjamin D. Tyrrell, Justin A. Ezekowitz, Wolfgang Schillinger, Gerd Hasenfuss, Kevin M. Bonney, David M. Engman, Thomas Klopstock, Friedrich Asmus, Thomas Gasser, Dina J. Zand, Elaine H. Zackai, Frank Schaeffel, Anders Oldfors, Niklas Darin, Tommy Martinsson, Ursula Knirsch, Gisela Stoltenburg-Didinger, Olayinka Raheem, and Tiina Suominen

Published
2009

44. Muscular Dystrophy, Tardive, with Contractures

Author

Mark Oette, Marvin J. Stone, Hendrik P. N. Scholl, Peter Charbel Issa, Monika Fleckenstein, Steffen Schmitz-Valckenberg, Frank G. Holz, Olaf Strauss, Jörg-Dieter Schulzke, Michael Fromm, Tommie V. McCarthy, Meinhard Schiller, Stephan Grabbe, Cord Sunderkötter, Gidon Almogy, Avraham I. Rivkind, Hideaki Kato, John W. Finley, Johannes Uhl, Jürgen Kopitz, Michael Cantz, Philip F. Giampietro, Inga Harting, Nicole I. Wolf, Jürgen Grabbe, Robert J. Beynon, Rosaline C. M. Quinlivan, Caroline A. Sewry, Naoto Kuroda, Cengiz Korkmaz, Anthony J. Bleyer, Thomas C. Hart, Michele Bisceglia, Carlos Galliani, Stefan Pfister, Olaf Witt, Alexander K. C. Leung, Jan Hellemans, Geert Mortier, Marcus Schmitt, Markus Pfister, Hans-Peter Zenner, Markus J. Riemenschneider, Guido Reifenberger, Julian F. B. Mercer, Sharon La Fontaine, Ingrid Moll, Bruce C. Kone, Stephan vom Dahl, Peter E. H. Schwarz, Jiang Li, Volkmar Gieselmann, David Genevieve, Martine Le Merrer, John-John B. Schnog, Victor E. A. Gerdes, Katrin Beyer, Elardus Erasmus, Lodewyk J. Mienie, Jan Bubeník, Jana Šímová, Thorsten Buch, Ansgar Schulz, Irmgard Förster, Shirley Hodgson, Holger Sudhoff, Peter J. Goadsby, Karin Jurkat-Rott, Frank Lehmann-Horn, John Logan, Bernadette McGuinness, Maria Isabel Melaragno, Marcial Francis Galera, Hardally R. Hegde, Hannu Jalanko, Maria Judit Molnar, Danae Liolitsa, Charungthai Dejthevaporn, Michael G. Hanna, Josef Finsterer, Yu-ichi Goto, Lucia K. Ma, Patrick T. S. Ma, Toshio Nishikimi, Siobhan D. Ma, Andrew Rozelle, Eliza F. Chakravarty, Stefan R. Bornstein, Sven Schinner, Marinus Duran, William Lane M. Robson, Christine Liang, Julie V. Schaffer, Claudiu Plesa, Franck E. Nicolini, Eric Sibley, Vinzenz Oji, Heiko Traupe, Damian Miles Bailey, Heimo Mairbäurl, Peter Bärtsch, Alexander A. C. Leung, Justine H. S. Fong, Michael Beck, Silke Hofmann, Leena Bruckner-Tuderman, Dieter Metze, Riikka H. Hämäläinen, Anna-Elina Lehesjoki, Marita Lipsanen-Nyman, Constantine Stratakis, Francesca Marini, Alberto Falchetti, Maria Luisa Brandi, Christian A. Koch, Constantine A. Stratakis, Michael Briggs, Wim Wuyts, Filip Vanhoenacker, Wim Hul, Hayrettin Tumani, Kurt Von Figura, Thomas Dierks, Bernhard Schmidt, Luca Busetto, Giuliano Enzi, Thomas Klockgether, Ioannis Stefanidis, Georgios M. Hadjigeorgiou, Klaus Zerres, Sabine Rudnik-Schöneborn, Hans-Jürgen Gdynia, Anne-Dorte Sperfeld, Eric P. Hoffman, Rabah Ben Yaou, Gisèle Bonne, Dominique Récan-Budiartha, Peter Hackman, Bjarne Udd, Wolfgang Dietmaier, Arndt Hartmann, Dominique Prié, Caroline Silve, Bernard Grandchamp, Gérard Friedlander, Andrew G. Engel, Werner Kempf, Reinhard Dummer, Günter Burg, Daniela Cilloni, Giuseppe Saglio, Ulrich S. Schuler, Ulrike Bacher, Claudia Haferlach, Susanne Schnittger, Torsten Haferlach, Reginald S. Sauve, Deepak Kamat, Stephen N. Makoni, Richard L. Sabina, Benjamin D. Tyrrell, Justin A. Ezekowitz, Wolfgang Schillinger, Gerd Hasenfuss, Kevin M. Bonney, David M. Engman, Thomas Klopstock, Friedrich Asmus, Thomas Gasser, Dina J. Zand, Elaine H. Zackai, Frank Schaeffel, Anders Oldfors, Niklas Darin, Tommy Martinsson, Ursula Knirsch, Gisela Stoltenburg-Didinger, Olayinka Raheem, and Tiina Suominen

Published
2009

45. Malignant Phenylketonuria

Author

Mark Oette, Marvin J. Stone, Hendrik P. N. Scholl, Peter Charbel Issa, Monika Fleckenstein, Steffen Schmitz-Valckenberg, Frank G. Holz, Olaf Strauss, Jörg-Dieter Schulzke, Michael Fromm, Tommie V. McCarthy, Meinhard Schiller, Stephan Grabbe, Cord Sunderkötter, Gidon Almogy, Avraham I. Rivkind, Hideaki Kato, John W. Finley, Johannes Uhl, Jürgen Kopitz, Michael Cantz, Philip F. Giampietro, Inga Harting, Nicole I. Wolf, Jürgen Grabbe, Robert J. Beynon, Rosaline C. M. Quinlivan, Caroline A. Sewry, Naoto Kuroda, Cengiz Korkmaz, Anthony J. Bleyer, Thomas C. Hart, Michele Bisceglia, Carlos Galliani, Stefan Pfister, Olaf Witt, Alexander K. C. Leung, Jan Hellemans, Geert Mortier, Marcus Schmitt, Markus Pfister, Hans-Peter Zenner, Markus J. Riemenschneider, Guido Reifenberger, Julian F. B. Mercer, Sharon La Fontaine, Ingrid Moll, Bruce C. Kone, Stephan vom Dahl, Peter E. H. Schwarz, Jiang Li, Volkmar Gieselmann, David Genevieve, Martine Le Merrer, John-John B. Schnog, Victor E. A. Gerdes, Katrin Beyer, Elardus Erasmus, Lodewyk J. Mienie, Jan Bubeník, Jana Šímová, Thorsten Buch, Ansgar Schulz, Irmgard Förster, Shirley Hodgson, Holger Sudhoff, Peter J. Goadsby, Karin Jurkat-Rott, Frank Lehmann-Horn, John Logan, Bernadette McGuinness, Maria Isabel Melaragno, Marcial Francis Galera, Hardally R. Hegde, Hannu Jalanko, Maria Judit Molnar, Danae Liolitsa, Charungthai Dejthevaporn, Michael G. Hanna, Josef Finsterer, Yu-ichi Goto, Lucia K. Ma, Patrick T. S. Ma, Toshio Nishikimi, Siobhan D. Ma, Andrew Rozelle, Eliza F. Chakravarty, Stefan R. Bornstein, Sven Schinner, Marinus Duran, William Lane M. Robson, Christine Liang, Julie V. Schaffer, Claudiu Plesa, Franck E. Nicolini, Eric Sibley, Vinzenz Oji, Heiko Traupe, Damian Miles Bailey, Heimo Mairbäurl, Peter Bärtsch, Alexander A. C. Leung, Justine H. S. Fong, Michael Beck, Silke Hofmann, Leena Bruckner-Tuderman, Dieter Metze, Riikka H. Hämäläinen, Anna-Elina Lehesjoki, Marita Lipsanen-Nyman, Constantine Stratakis, Francesca Marini, Alberto Falchetti, Maria Luisa Brandi, Christian A. Koch, Constantine A. Stratakis, Michael Briggs, Wim Wuyts, Filip Vanhoenacker, Wim Hul, Hayrettin Tumani, Kurt Von Figura, Thomas Dierks, Bernhard Schmidt, Luca Busetto, Giuliano Enzi, Thomas Klockgether, Ioannis Stefanidis, Georgios M. Hadjigeorgiou, Klaus Zerres, Sabine Rudnik-Schöneborn, Hans-Jürgen Gdynia, Anne-Dorte Sperfeld, Eric P. Hoffman, Rabah Ben Yaou, Gisèle Bonne, Dominique Récan-Budiartha, Peter Hackman, Bjarne Udd, Wolfgang Dietmaier, Arndt Hartmann, Dominique Prié, Caroline Silve, Bernard Grandchamp, Gérard Friedlander, Andrew G. Engel, Werner Kempf, Reinhard Dummer, Günter Burg, Daniela Cilloni, Giuseppe Saglio, Ulrich S. Schuler, Ulrike Bacher, Claudia Haferlach, Susanne Schnittger, Torsten Haferlach, Reginald S. Sauve, Deepak Kamat, Stephen N. Makoni, Richard L. Sabina, Benjamin D. Tyrrell, Justin A. Ezekowitz, Wolfgang Schillinger, Gerd Hasenfuss, Kevin M. Bonney, David M. Engman, Thomas Klopstock, Friedrich Asmus, Thomas Gasser, Dina J. Zand, Elaine H. Zackai, Frank Schaeffel, Anders Oldfors, Niklas Darin, Tommy Martinsson, Ursula Knirsch, Gisela Stoltenburg-Didinger, Olayinka Raheem, and Tiina Suominen

Published
2009

46. Carnitine Deficiency (without Transport and Uptake)

Author

Nils Peters, Martin Dichgans, Sankar Surendran, Josep M. Argilés, Francisco J. López-Soriano, Sílvia Busquets, Klaus Dittmann, H. Peter Rodemann, Anca Sindrilaru, Cord Sunderkötter, Hiroshi Watanabe, Dan M. Roden, Giora Feuerstein, Robert Ruffolo, Ralph Knöll, Srijita Sen-Chowdhry, Deirdre Ward, William J. McKenna, Jens Mogensen, Mangala A. Nadkarni, F. Elizabeth Martin, Nicholas A. Jacques, Neil Hunter, Markus Böhm, Thomas A. Luger, Tilman Grune, Nicola Longo, Cristina Amat Di San Filippo, Elisabeth L. Schwarz, Marzia Pasquali, Elardus Erasmus, Lodewyk J. Mienie, Marcus Deschauer, Stephan Zierz, Du Toit Loots, Lee A. Denson, Helen C. Su, Michael J. Lenardo, Heather E. McDermid, Graeme Eisenhofer, Oscar De La Calle-Martin, Natalia Casamitjana, Cristina Woellner, Bodo Grimbacher, Detlef Schuppan, Walter Lisch, Berthold Seitz, Andreas Janecke, Tommie V. McCarthy, Carina Wallgren-Pettersson, Joost Haan, Michael T. Wunderlich, Nicole Revencu, Miikka Vikkula, Akira Honda, Seema R. Lalani, John W. Belmont, Julian Ilcheff Borissoff, Hugo Ten Cate, Takatoshi Kasai, Daniel Markovich, Michael Trauner, Carlo Selmi, M. Eric Gershwin, Malcolm A. Lyons, Kirk J. Maurer, Martin C. Carey, Frank Lammert, Tilman Sauerbruch, Peter L. M. Jansen, Holger Sudhoff, Stephan Vom Dahl, Detlev Ameis, Muhammad Faiyaz-Ul-Haque, Syed Hassan Ejaz Zaidi, Caroline Silve, Piero Pavone, Rosario Rich Trifiletti, Friedrich Asmus, Petra Weckerle, Gesa Schwanitz, Barbara Busert, Tanya Thiagarajah, Walter Muir, Ben Pickard, Anthony J. Cleare, Hubert Scharnagl, Winfried März, Ralf Kubitz, Dieter Häussinger, Norbert Schwenzer, Alexander K. C. Leung, William Lane M. Robson, Andrew L. Wong, Yener Güzelcan, Francesco Trotta, Andrea Lo Monaco, Reginald S. Sauve, Todd D. Rozen, Gloria L. David, Darryl C. Zeldin, P. Syamasundar Rao, Anne M. Molloy, John M. Scott, Göksel Somay, Sultan Ayoub Meo, Joshua Fierer, Mark Berneburg, Thomas Schwarz, Jürgen Schölmerich, Anne Katrin Lampe, Kate Bushby, William J. Speake, John Simpson, Hope E. Uronis, Gerard C. Blobe, Diego Franco, Amelia Aránega, Eggert Stockfleth, Ingo Nindl, Christian Hamel, Felix G. Riepe, Erich C. Strauss, Vinzenz Oji, Heiko Traupe, Thomas Frieling, Andrea Cavani, Giampiero Girolomoni, Randolf Brehler, Ortrud K. Steinlein, Janet Y. Uriu-Adams, Jean-Charles Deybach, Hervé Puy, Michael L. S. Ma, Patrick T. S. Ma, Alexander A. C. Leung, Jolanta Wierzba, Angelo Selicorni, Yskert Von Kodolitsch, Wulf Ito, Nilanjana Maulik, Rainer Voisard, Hiroki Teragawa, Kazuaki Chayama, Renzo Guerrini, Carla Marini, Elena Parrini, Alexander Storch, Johannes Schwarz, Sonja Ständer, Kam-Lun Ellis Hon, Chiu-Wing Winnie Chu, Olaf A. Bodamer, Sylvia Stöckler-Ipsiroglu, Tatsuro Kondoh, Osamu Shimokawa, Naoki Harada, Hiroyuki Moriuchi, Karsten Schulmann, Christian Pox, Wolff Schmiegel, James E. Crowe, Nan Hatch, Mark Bothwell, Holger S. Willenberg, Stefan R. Bornstein, Zsolt Urban, Francesco Borgia, Fabrizio Guarneri, Mario Vaccaro, Dieter Metze, Karl Kunzelmann, Marcus Mall, Paul Cheung-Lung Choi, William A. Gahl, Thomas Knoll, Albrecht Hesse, and Michaela Jaksch

Published
2009

47. Cirrhose Cardiaque

Author

Nils Peters, Martin Dichgans, Sankar Surendran, Josep M. Argilés, Francisco J. López-Soriano, Sílvia Busquets, Klaus Dittmann, H. Peter Rodemann, Anca Sindrilaru, Cord Sunderkötter, Hiroshi Watanabe, Dan M. Roden, Giora Feuerstein, Robert Ruffolo, Ralph Knöll, Srijita Sen-Chowdhry, Deirdre Ward, William J. McKenna, Jens Mogensen, Mangala A. Nadkarni, F. Elizabeth Martin, Nicholas A. Jacques, Neil Hunter, Markus Böhm, Thomas A. Luger, Tilman Grune, Nicola Longo, Cristina Amat Di San Filippo, Elisabeth L. Schwarz, Marzia Pasquali, Elardus Erasmus, Lodewyk J. Mienie, Marcus Deschauer, Stephan Zierz, Du Toit Loots, Lee A. Denson, Helen C. Su, Michael J. Lenardo, Heather E. McDermid, Graeme Eisenhofer, Oscar De La Calle-Martin, Natalia Casamitjana, Cristina Woellner, Bodo Grimbacher, Detlef Schuppan, Walter Lisch, Berthold Seitz, Andreas Janecke, Tommie V. McCarthy, Carina Wallgren-Pettersson, Joost Haan, Michael T. Wunderlich, Nicole Revencu, Miikka Vikkula, Akira Honda, Seema R. Lalani, John W. Belmont, Julian Ilcheff Borissoff, Hugo Ten Cate, Takatoshi Kasai, Daniel Markovich, Michael Trauner, Carlo Selmi, M. Eric Gershwin, Malcolm A. Lyons, Kirk J. Maurer, Martin C. Carey, Frank Lammert, Tilman Sauerbruch, Peter L. M. Jansen, Holger Sudhoff, Stephan Vom Dahl, Detlev Ameis, Muhammad Faiyaz-Ul-Haque, Syed Hassan Ejaz Zaidi, Caroline Silve, Piero Pavone, Rosario Rich Trifiletti, Friedrich Asmus, Petra Weckerle, Gesa Schwanitz, Barbara Busert, Tanya Thiagarajah, Walter Muir, Ben Pickard, Anthony J. Cleare, Hubert Scharnagl, Winfried März, Ralf Kubitz, Dieter Häussinger, Norbert Schwenzer, Alexander K. C. Leung, William Lane M. Robson, Andrew L. Wong, Yener Güzelcan, Francesco Trotta, Andrea Lo Monaco, Reginald S. Sauve, Todd D. Rozen, Gloria L. David, Darryl C. Zeldin, P. Syamasundar Rao, Anne M. Molloy, John M. Scott, Göksel Somay, Sultan Ayoub Meo, Joshua Fierer, Mark Berneburg, Thomas Schwarz, Jürgen Schölmerich, Anne Katrin Lampe, Kate Bushby, William J. Speake, John Simpson, Hope E. Uronis, Gerard C. Blobe, Diego Franco, Amelia Aránega, Eggert Stockfleth, Ingo Nindl, Christian Hamel, Felix G. Riepe, Erich C. Strauss, Vinzenz Oji, Heiko Traupe, Thomas Frieling, Andrea Cavani, Giampiero Girolomoni, Randolf Brehler, Ortrud K. Steinlein, Janet Y. Uriu-Adams, Jean-Charles Deybach, Hervé Puy, Michael L. S. Ma, Patrick T. S. Ma, Alexander A. C. Leung, Jolanta Wierzba, Angelo Selicorni, Yskert Von Kodolitsch, Wulf Ito, Nilanjana Maulik, Rainer Voisard, Hiroki Teragawa, Kazuaki Chayama, Renzo Guerrini, Carla Marini, Elena Parrini, Alexander Storch, Johannes Schwarz, Sonja Ständer, Kam-Lun Ellis Hon, Chiu-Wing Winnie Chu, Olaf A. Bodamer, Sylvia Stöckler-Ipsiroglu, Tatsuro Kondoh, Osamu Shimokawa, Naoki Harada, Hiroyuki Moriuchi, Karsten Schulmann, Christian Pox, Wolff Schmiegel, James E. Crowe, Nan Hatch, Mark Bothwell, Holger S. Willenberg, Stefan R. Bornstein, Zsolt Urban, Francesco Borgia, Fabrizio Guarneri, Mario Vaccaro, Dieter Metze, Karl Kunzelmann, Marcus Mall, Paul Cheung-Lung Choi, William A. Gahl, Thomas Knoll, Albrecht Hesse, and Michaela Jaksch

Published
2009

48. Metachromatic Leukodystrophy

Author

Mark Oette, Marvin J. Stone, Hendrik P. N. Scholl, Peter Charbel Issa, Monika Fleckenstein, Steffen Schmitz-Valckenberg, Frank G. Holz, Olaf Strauss, Jörg-Dieter Schulzke, Michael Fromm, Tommie V. McCarthy, Meinhard Schiller, Stephan Grabbe, Cord Sunderkötter, Gidon Almogy, Avraham I. Rivkind, Hideaki Kato, John W. Finley, Johannes Uhl, Jürgen Kopitz, Michael Cantz, Philip F. Giampietro, Inga Harting, Nicole I. Wolf, Jürgen Grabbe, Robert J. Beynon, Rosaline C. M. Quinlivan, Caroline A. Sewry, Naoto Kuroda, Cengiz Korkmaz, Anthony J. Bleyer, Thomas C. Hart, Michele Bisceglia, Carlos Galliani, Stefan Pfister, Olaf Witt, Alexander K. C. Leung, Jan Hellemans, Geert Mortier, Marcus Schmitt, Markus Pfister, Hans-Peter Zenner, Markus J. Riemenschneider, Guido Reifenberger, Julian F. B. Mercer, Sharon La Fontaine, Ingrid Moll, Bruce C. Kone, Stephan vom Dahl, Peter E. H. Schwarz, Jiang Li, Volkmar Gieselmann, David Genevieve, Martine Le Merrer, John-John B. Schnog, Victor E. A. Gerdes, Katrin Beyer, Elardus Erasmus, Lodewyk J. Mienie, Jan Bubeník, Jana Šímová, Thorsten Buch, Ansgar Schulz, Irmgard Förster, Shirley Hodgson, Holger Sudhoff, Peter J. Goadsby, Karin Jurkat-Rott, Frank Lehmann-Horn, John Logan, Bernadette McGuinness, Maria Isabel Melaragno, Marcial Francis Galera, Hardally R. Hegde, Hannu Jalanko, Maria Judit Molnar, Danae Liolitsa, Charungthai Dejthevaporn, Michael G. Hanna, Josef Finsterer, Yu-ichi Goto, Lucia K. Ma, Patrick T. S. Ma, Toshio Nishikimi, Siobhan D. Ma, Andrew Rozelle, Eliza F. Chakravarty, Stefan R. Bornstein, Sven Schinner, Marinus Duran, William Lane M. Robson, Christine Liang, Julie V. Schaffer, Claudiu Plesa, Franck E. Nicolini, Eric Sibley, Vinzenz Oji, Heiko Traupe, Damian Miles Bailey, Heimo Mairbäurl, Peter Bärtsch, Alexander A. C. Leung, Justine H. S. Fong, Michael Beck, Silke Hofmann, Leena Bruckner-Tuderman, Dieter Metze, Riikka H. Hämäläinen, Anna-Elina Lehesjoki, Marita Lipsanen-Nyman, Constantine Stratakis, Francesca Marini, Alberto Falchetti, Maria Luisa Brandi, Christian A. Koch, Constantine A. Stratakis, Michael Briggs, Wim Wuyts, Filip Vanhoenacker, Wim Hul, Hayrettin Tumani, Kurt Von Figura, Thomas Dierks, Bernhard Schmidt, Luca Busetto, Giuliano Enzi, Thomas Klockgether, Ioannis Stefanidis, Georgios M. Hadjigeorgiou, Klaus Zerres, Sabine Rudnik-Schöneborn, Hans-Jürgen Gdynia, Anne-Dorte Sperfeld, Eric P. Hoffman, Rabah Ben Yaou, Gisèle Bonne, Dominique Récan-Budiartha, Peter Hackman, Bjarne Udd, Wolfgang Dietmaier, Arndt Hartmann, Dominique Prié, Caroline Silve, Bernard Grandchamp, Gérard Friedlander, Andrew G. Engel, Werner Kempf, Reinhard Dummer, Günter Burg, Daniela Cilloni, Giuseppe Saglio, Ulrich S. Schuler, Ulrike Bacher, Claudia Haferlach, Susanne Schnittger, Torsten Haferlach, Reginald S. Sauve, Deepak Kamat, Stephen N. Makoni, Richard L. Sabina, Benjamin D. Tyrrell, Justin A. Ezekowitz, Wolfgang Schillinger, Gerd Hasenfuss, Kevin M. Bonney, David M. Engman, Thomas Klopstock, Friedrich Asmus, Thomas Gasser, Dina J. Zand, Elaine H. Zackai, Frank Schaeffel, Anders Oldfors, Niklas Darin, Tommy Martinsson, Ursula Knirsch, Gisela Stoltenburg-Didinger, Olayinka Raheem, and Tiina Suominen

Published
2009

49. Cobalamine Deficiency

Author

Nils Peters, Martin Dichgans, Sankar Surendran, Josep M. Argilés, Francisco J. López-Soriano, Sílvia Busquets, Klaus Dittmann, H. Peter Rodemann, Anca Sindrilaru, Cord Sunderkötter, Hiroshi Watanabe, Dan M. Roden, Giora Feuerstein, Robert Ruffolo, Ralph Knöll, Srijita Sen-Chowdhry, Deirdre Ward, William J. McKenna, Jens Mogensen, Mangala A. Nadkarni, F. Elizabeth Martin, Nicholas A. Jacques, Neil Hunter, Markus Böhm, Thomas A. Luger, Tilman Grune, Nicola Longo, Cristina Amat Di San Filippo, Elisabeth L. Schwarz, Marzia Pasquali, Elardus Erasmus, Lodewyk J. Mienie, Marcus Deschauer, Stephan Zierz, Du Toit Loots, Lee A. Denson, Helen C. Su, Michael J. Lenardo, Heather E. McDermid, Graeme Eisenhofer, Oscar De La Calle-Martin, Natalia Casamitjana, Cristina Woellner, Bodo Grimbacher, Detlef Schuppan, Walter Lisch, Berthold Seitz, Andreas Janecke, Tommie V. McCarthy, Carina Wallgren-Pettersson, Joost Haan, Michael T. Wunderlich, Nicole Revencu, Miikka Vikkula, Akira Honda, Seema R. Lalani, John W. Belmont, Julian Ilcheff Borissoff, Hugo Ten Cate, Takatoshi Kasai, Daniel Markovich, Michael Trauner, Carlo Selmi, M. Eric Gershwin, Malcolm A. Lyons, Kirk J. Maurer, Martin C. Carey, Frank Lammert, Tilman Sauerbruch, Peter L. M. Jansen, Holger Sudhoff, Stephan Vom Dahl, Detlev Ameis, Muhammad Faiyaz-Ul-Haque, Syed Hassan Ejaz Zaidi, Caroline Silve, Piero Pavone, Rosario Rich Trifiletti, Friedrich Asmus, Petra Weckerle, Gesa Schwanitz, Barbara Busert, Tanya Thiagarajah, Walter Muir, Ben Pickard, Anthony J. Cleare, Hubert Scharnagl, Winfried März, Ralf Kubitz, Dieter Häussinger, Norbert Schwenzer, Alexander K. C. Leung, William Lane M. Robson, Andrew L. Wong, Yener Güzelcan, Francesco Trotta, Andrea Lo Monaco, Reginald S. Sauve, Todd D. Rozen, Gloria L. David, Darryl C. Zeldin, P. Syamasundar Rao, Anne M. Molloy, John M. Scott, Göksel Somay, Sultan Ayoub Meo, Joshua Fierer, Mark Berneburg, Thomas Schwarz, Jürgen Schölmerich, Anne Katrin Lampe, Kate Bushby, William J. Speake, John Simpson, Hope E. Uronis, Gerard C. Blobe, Diego Franco, Amelia Aránega, Eggert Stockfleth, Ingo Nindl, Christian Hamel, Felix G. Riepe, Erich C. Strauss, Vinzenz Oji, Heiko Traupe, Thomas Frieling, Andrea Cavani, Giampiero Girolomoni, Randolf Brehler, Ortrud K. Steinlein, Janet Y. Uriu-Adams, Jean-Charles Deybach, Hervé Puy, Michael L. S. Ma, Patrick T. S. Ma, Alexander A. C. Leung, Jolanta Wierzba, Angelo Selicorni, Yskert Von Kodolitsch, Wulf Ito, Nilanjana Maulik, Rainer Voisard, Hiroki Teragawa, Kazuaki Chayama, Renzo Guerrini, Carla Marini, Elena Parrini, Alexander Storch, Johannes Schwarz, Sonja Ständer, Kam-Lun Ellis Hon, Chiu-Wing Winnie Chu, Olaf A. Bodamer, Sylvia Stöckler-Ipsiroglu, Tatsuro Kondoh, Osamu Shimokawa, Naoki Harada, Hiroyuki Moriuchi, Karsten Schulmann, Christian Pox, Wolff Schmiegel, James E. Crowe, Nan Hatch, Mark Bothwell, Holger S. Willenberg, Stefan R. Bornstein, Zsolt Urban, Francesco Borgia, Fabrizio Guarneri, Mario Vaccaro, Dieter Metze, Karl Kunzelmann, Marcus Mall, Paul Cheung-Lung Choi, William A. Gahl, Thomas Knoll, Albrecht Hesse, and Michaela Jaksch

Published
2009

50. Menkes Disease

Author

Mark Oette, Marvin J. Stone, Hendrik P. N. Scholl, Peter Charbel Issa, Monika Fleckenstein, Steffen Schmitz-Valckenberg, Frank G. Holz, Olaf Strauss, Jörg-Dieter Schulzke, Michael Fromm, Tommie V. McCarthy, Meinhard Schiller, Stephan Grabbe, Cord Sunderkötter, Gidon Almogy, Avraham I. Rivkind, Hideaki Kato, John W. Finley, Johannes Uhl, Jürgen Kopitz, Michael Cantz, Philip F. Giampietro, Inga Harting, Nicole I. Wolf, Jürgen Grabbe, Robert J. Beynon, Rosaline C. M. Quinlivan, Caroline A. Sewry, Naoto Kuroda, Cengiz Korkmaz, Anthony J. Bleyer, Thomas C. Hart, Michele Bisceglia, Carlos Galliani, Stefan Pfister, Olaf Witt, Alexander K. C. Leung, Jan Hellemans, Geert Mortier, Marcus Schmitt, Markus Pfister, Hans-Peter Zenner, Markus J. Riemenschneider, Guido Reifenberger, Julian F. B. Mercer, Sharon La Fontaine, Ingrid Moll, Bruce C. Kone, Stephan vom Dahl, Peter E. H. Schwarz, Jiang Li, Volkmar Gieselmann, David Genevieve, Martine Le Merrer, John-John B. Schnog, Victor E. A. Gerdes, Katrin Beyer, Elardus Erasmus, Lodewyk J. Mienie, Jan Bubeník, Jana Šímová, Thorsten Buch, Ansgar Schulz, Irmgard Förster, Shirley Hodgson, Holger Sudhoff, Peter J. Goadsby, Karin Jurkat-Rott, Frank Lehmann-Horn, John Logan, Bernadette McGuinness, Maria Isabel Melaragno, Marcial Francis Galera, Hardally R. Hegde, Hannu Jalanko, Maria Judit Molnar, Danae Liolitsa, Charungthai Dejthevaporn, Michael G. Hanna, Josef Finsterer, Yu-ichi Goto, Lucia K. Ma, Patrick T. S. Ma, Toshio Nishikimi, Siobhan D. Ma, Andrew Rozelle, Eliza F. Chakravarty, Stefan R. Bornstein, Sven Schinner, Marinus Duran, William Lane M. Robson, Christine Liang, Julie V. Schaffer, Claudiu Plesa, Franck E. Nicolini, Eric Sibley, Vinzenz Oji, Heiko Traupe, Damian Miles Bailey, Heimo Mairbäurl, Peter Bärtsch, Alexander A. C. Leung, Justine H. S. Fong, Michael Beck, Silke Hofmann, Leena Bruckner-Tuderman, Dieter Metze, Riikka H. Hämäläinen, Anna-Elina Lehesjoki, Marita Lipsanen-Nyman, Constantine Stratakis, Francesca Marini, Alberto Falchetti, Maria Luisa Brandi, Christian A. Koch, Constantine A. Stratakis, Michael Briggs, Wim Wuyts, Filip Vanhoenacker, Wim Hul, Hayrettin Tumani, Kurt Von Figura, Thomas Dierks, Bernhard Schmidt, Luca Busetto, Giuliano Enzi, Thomas Klockgether, Ioannis Stefanidis, Georgios M. Hadjigeorgiou, Klaus Zerres, Sabine Rudnik-Schöneborn, Hans-Jürgen Gdynia, Anne-Dorte Sperfeld, Eric P. Hoffman, Rabah Ben Yaou, Gisèle Bonne, Dominique Récan-Budiartha, Peter Hackman, Bjarne Udd, Wolfgang Dietmaier, Arndt Hartmann, Dominique Prié, Caroline Silve, Bernard Grandchamp, Gérard Friedlander, Andrew G. Engel, Werner Kempf, Reinhard Dummer, Günter Burg, Daniela Cilloni, Giuseppe Saglio, Ulrich S. Schuler, Ulrike Bacher, Claudia Haferlach, Susanne Schnittger, Torsten Haferlach, Reginald S. Sauve, Deepak Kamat, Stephen N. Makoni, Richard L. Sabina, Benjamin D. Tyrrell, Justin A. Ezekowitz, Wolfgang Schillinger, Gerd Hasenfuss, Kevin M. Bonney, David M. Engman, Thomas Klopstock, Friedrich Asmus, Thomas Gasser, Dina J. Zand, Elaine H. Zackai, Frank Schaeffel, Anders Oldfors, Niklas Darin, Tommy Martinsson, Ursula Knirsch, Gisela Stoltenburg-Didinger, Olayinka Raheem, and Tiina Suominen

Published
2009

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