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1. Aspartoacylase gene knockout results in severe vacuolation in the white matter and gray matter of the spinal cord in the mouse

Author: Sankar Surendran, Gerald A. Campbell, Stephen K. Tyring, and Reuben Matalon
Subjects: Canavan disease, Spinal cord vacuolation, Aspartoacylase, Knockout mouse, Gray matter, White matter, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571
Abstract: Canavan disease (CD) is a neurodegenerative disorder characterized by the spongy degeneration of the white matter of the brain. Aspartoacylase (ASPA) gene mutation resulting enzyme deficiency is the basic cause of CD. Whether the ASPA defect in CD affects the spinal cord has been investigated using the ASPA gene knockout mouse. Luxol fast blue-hematoxylin and eosin staining in the spinal cord of the knockout mouse showed vacuolation in both white matter and gray matter areas of cervical, thoracic, lumbar, and sacral segments of the spinal cord. However, more vacuoles were seen in the gray matter than the white matter of the spinal cord. ASPA activity in the cervical, thoracic, lumbar, and sacrococcygeal regions of the spinal cord was significantly lower in the knockout mouse compared to the wild type. The enzyme defect in the knockout mouse was also confirmed using the Western blot method. These observations suggest that the ASPA gene defect in the mouse leads to spinal cord pathology, and that these changes may be partly involved in the cause of the physiological/behavioral abnormalities seen in the knockout mouse, if documented also in patients with CD.
Published: 2005
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2. A Rare Case of Incidentally Diagnosed Brucellosis in A Patient with Congenital Dyserythropoietic Anemia and IgA Nephropathy: A Diagnostic Dilemma

Author: Priyadarshi Ketan, Kundu Ramit, primary, B. S. Nagashri, Veerappan Kowsalya, additional, and Sastry Apurba Sankar, Surendran Deepanjali, additional
Published: 2021
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3. Neurochemistry of Metabolic Diseases: Lysosomal Storage Diseases, Phenylketonuria, and Canavan Disease

Author: Sankar Surendran and Sankar Surendran
Subjects: Brain--Metabolism--Disorders--Treatment, Brain--Metabolism--Disorders--Pathophysiology
Abstract: Metabolic disorder caused by altered levels of metabolism resulting pathophysiological abnormalities often leads to childhood death. Several new developments on metabolic diseases research have been emerging. Gaucher disease is a lysosomal storage disorder caused by glucocerebrosidase gene mutations resulting glucocerebrosidase deficiency. Current studies show that the same gene mutations also contribute to the Parkinson's disease. Tetrahydrobiopterin (BH4) has been widely used in treating patients with Phenylketonuria over a decade. Recent studies reveal that patients treated with BH4 over one-year period showed reduced levels of serum B12, folate and iron intake and therefore patients under chronic BH4 treatment needed to be advised to have additional micronutrients along with BH4. Macrocephaly was used as one of the important features to diagnose Canavan disease. However, a recent study showing a child with aspartoacylase gene mutation developed microcephaly. Hence, Canavan disease phenotype can be either macrocephaly or microcephaly. These are a few examples of recent developments on metabolic diseases research. Therefore, this book was aimed to compose current developments on metabolic diseases research for the use by broad spectrum of experts including Physicians, Neuroscientists, Neurologists, Biomedical researchers, Biochemists, Molecular biologists, Basic Science Researchers and Medical Students.
Published: 2020

4. Arginine Stimulates cdx2-Transformed Intestinal Epithelial Cell Migration via a Mechanism Requiring Both Nitric Oxide and Phosphorylation of p70 S6 Kinase1

Author: Sankar Surendran, J. Marc Rhoads, Xiaomei Niu, Guoyao Wu, and Yuying Liu
Subjects: Nutrition and Dietetics, Arginine, Medicine (miscellaneous), P70-S6 Kinase 1, Cell migration, Biology, Molecular biology, Nitric oxide, chemistry.chemical_compound, Biochemistry, chemistry, Cell culture, Intestinal epithelial cell migration, Phosphorylation, Signal transduction
Abstract: In intestinal cells, arginine (Arg) is 1 of the 2 most potent amino acid activators of p70(s6k), a key regulator of 5'- terminal oligopyrimidine mRNA translation, a necessary condition for increased cell migration. To investigate the mechanism of response to Arg, we used the rat crypt cell line cdx2-transformed IEC-6 cells (cdx2-IEC) and measured cell migration, immunocytochemical analysis of p70(s6k) activation in response to Arg, and production of nitric oxide (NO). When treated with Arg, cdx2-IEC increased in phosphorylation on Thr-389 of p70(s6k) (pp70(s6k)) compared with control (P < 0.01). Phospho-Thr-421/Ser-424-p70(s6k) was located in the nucleus shortly after Arg treatment. Arg enhanced pp70(s6k), cell migration (55% wound coverage), and NO production. In comparison, the branched-chain amino acid leucine (Leu) activated pp70(s6k), was a weaker stimulator of migration (23% coverage), and did not increase NO. A total of 25 micromol/L DETA-NONOate (DETA/NO) did not significantly enhance phosphorylation of p70(s6k) but enhanced the rate of cell migration by approximately 25%. Wound coverage with Leu plus DETA/NO (25 micromol/L) was greater than coverage with DETA/NO alone (P < 0.01). These and our previous studies lead to a model in which Arg must stimulate both pp70(s6k) (in the nucleus) and NO release to enhance intestinal epithelial cell migration, which may be relevant to diseases that involve intestinal villous injury.
Published: 2008
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5. Hyaluronidase increases the biodistribution of acid α-1,4 glucosidase in the muscle of Pompe disease mice: An approach to enhance the efficacy of enzyme replacement therapy

Author: James Grady, Gerald A. Campbell, Edward M. Kaye, Sankar Surendran, Seng H. Cheng, Stephen K. Tyring, Kimberlee Michals-Matalon, and Reuben Matalon
Subjects: congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Biophysics, Hyaluronoglucosaminidase, Biochemistry, Mice, chemistry.chemical_compound, Hyaluronidase, Internal medicine, Glycogen storage disease type II, medicine, Animals, Glycogen storage disease, Tissue Distribution, Muscle, Skeletal, Molecular Biology, biology, Glycogen, Glycogen Storage Disease Type II, nutritional and metabolic diseases, Skeletal muscle, alpha-Glucosidases, Cell Biology, Enzyme replacement therapy, medicine.disease, Enzyme assay, Treatment Outcome, Endocrinology, medicine.anatomical_structure, chemistry, Organ Specificity, Injections, Intravenous, biology.protein, Maltase, Injections, Intraperitoneal, medicine.drug
Abstract: Pompe disease (glycogen storage disease type II) is a glycogen storage disease caused by a deficiency of the lysosomal enzyme, acid maltase/acid α-1,4 glucosidase (GAA). Deficiency of the enzyme leads primarily to intra-lysosomal glycogen accumulation, primarily in cardiac and skeletal muscles, due to the inability of converting glycogen into glucose. Enzyme replacement therapy (ERT) has been applied to replace the deficient enzyme and to restore the lost function. However, enhancing the enzyme activity to the muscle following ERT is relatively insufficient. In order to enhance GAA activity into the muscle in Pompe disease, efficacy of hyaluronidase (hyase) was examined in the heart, quadriceps, diaphragm, kidney, and brain of mouse model of Pompe disease. Administration of hyase 3000 U/mouse (intravenous) i.v. or i.p. (intraperitoneal) and 10 min later recombinant human GAA (rhGAA) 20 mg/kg i.v. showed more GAA activity in hyase i.p. injected mice compared to those mice injected with hyase via i.v. Injection of low dose of hyase (3000 U/mouse) or high dose of hyase (10,000 U/mouse) i.p. and 20 min or 60 min later 20 mg/kg rhGAA i.v. increased GAA activity into the heart, diaphragm, kidney, and quadriceps compared to hyase untreated mice. These studies suggest that hyase enhances penetration of enzyme into the tissues including muscle during ERT and therefore hyase pretreatment may be important in treating Pompe disease.
Published: 2006
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6. Abnormal Expression of Genes Associated with Development and Inflammation in the Heart of Mouse Maternal Phenylketonuria Offspring

Author: Sankar Surendran, Kimberlee Michals-Matalon, Anthony O. Okorodudu, P. Harris, Stephen K. Tyring, Reuben Matalon, and J. D. McDonald
Subjects: Heterozygote, Phenylketonuria, Maternal, medicine.medical_specialty, Heart Diseases, Offspring, Immunology, Protein Array Analysis, Ryanodine receptor 2, Mice, 03 medical and health sciences, Fetal Heart, 0302 clinical medicine, Troponin T, Pregnancy, Internal medicine, Troponin I, Gene expression, medicine, Animals, Immunology and Allergy, RNA, Messenger, Gene, Crosses, Genetic, Inflammation, Pharmacology, biology, Heart development, Reverse Transcriptase Polymerase Chain Reaction, Homozygote, Gene Expression Regulation, Developmental, Ryanodine Receptor Calcium Release Channel, Troponin, Disease Models, Animal, Endocrinology, 030220 oncology & carcinogenesis, biology.protein, Female, 030215 immunology
Abstract: This study descibes gene expression in the fetus hearts obtained from mouse model for Phenylketonuria. These hearts have cardiovascular disease (CVD). Therefore genes involved in CVD were examined. Several genes associated with heart development and inflammation were found to be altered. In order to investigate whether the abnormal gene expression alters transcription and translation, the levels of troponin mRNA and protein were determined. One step real time RT-PCR showed a reduction in cardiac troponin I, troponin T2 and ryanodine receptor 2. Determination of troponin I and T protein levels showed reduced levels of these proteins. Our results suggest that altered gene expression affects protein production. These changes are likely involved in the cardiovascular defects seen in the mouse.
Published: 2005
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7. Expression of calpastatin, minopontin, NIPSNAP1, rabaptin-5 and neuronatin in the phenylketonuria (PKU) mouse brain: Possible role on cognitive defect seen in PKU

Author: Sankar Surendran, Reuben Matalon, and Stephen K. Tyring
Subjects: congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Phenylalanine hydroxylase, Sialoglycoproteins, Central nervous system, Vesicular Transport Proteins, Down-Regulation, Gene Expression, Nerve Tissue Proteins, Phenylalanine, Biology, Mice, Cellular and Molecular Neuroscience, Phenylketonurias, Internal medicine, Gene expression, medicine, Animals, RNA, Messenger, Phenylketonuria (PKU), Oligonucleotide Array Sequence Analysis, Calpastatin, Gene Expression Profiling, Calcium-Binding Proteins, Wild type, Brain, Membrane Proteins, Proteins, nutritional and metabolic diseases, Cell Biology, medicine.disease, Mice, Mutant Strains, Up-Regulation, Disease Models, Animal, Endocrinology, medicine.anatomical_structure, biology.protein, Intercellular Signaling Peptides and Proteins, Osteopontin, Neuronatin, Cognition Disorders
Abstract: Phenylketonuria (PKU) is an inborn error of amino acid metabolism. Phenylalanine hydroxylase (PAH) deficiency results in accumulation of phenylalanine (Phe) in the brain and leads to pathophysiological abnormalities including cognitive defect, if Phe diet is not restricted. Neuronatin and 4-nitrophenylphosphatase domain and non-neuronal SNAP25-like protein homolog 1 (NIPSNAP1) reportedly have role in memory. Therefore, gene expression was examined in the brain of mouse model for PKU. Microarray expression analysis revealed reduced expression of calpastatin, NIPSNAP 1, rabaptin-5 and minopontin genes and overexpression of neuronatin gene in the PKU mouse brain. Altered expression of these genes was further confirmed by one-step real time RT-PCR analysis. Western blot analysis of the mouse brain showed reduced levels of calpastatin and rabaptin-5 and higher amount of neuronatin in PKU compared to the wild type. These observations in the PKU mouse brain suggest that altered expression of these genes resulting in abnormal proteome. These changes in the PKU mouse brain are likely to contribute cognitive impairment seen in the PKU mouse, if documented also in patients with PKU.
Published: 2005
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8. Correction of kinetic and stability defects by tetrahydrobiopterin in phenylketonuria patients with certain phenylalanine hydroxylase mutations

Author: Sankar Surendran, Belén Pérez, Reuben Matalon, Cristina Aguado, Heidi Erlandsen, Charles R. Scriver, Alejandra Gámez, Raymond C. Stevens, Angel L. Pey, Aurora Martinez, Lourdes R. Desviat, Stephen K. Tyring, Magdalena Ugarte, and Richard Koch
Subjects: Models, Molecular, Phenylalanine hydroxylase, Phenylketonurias, Mutant, Cooperativity, Enzyme Stability, medicine, Humans, Tyrosine, chemistry.chemical_classification, Multidisciplinary, biology, Phenylalanine Hydroxylase, Active site, Tetrahydrobiopterin, Biological Sciences, Biopterin, Kinetics, Enzyme, Biochemistry, chemistry, Mutagenesis, Site-Directed, biology.protein, Oxidation-Reduction, medicine.drug
Abstract: Phenylketonuria patients harboring a subset of phenylalanine hydroxylase (PAH) mutations have recently shown normalization of blood phenylalanine levels upon oral administration of the PAH cofactor tetrahydrobiopterin [(6 R )- l - erythro -5,6,7,8-tetrahydrobiopterin (BH 4 )]. Several hypotheses have been put forward to explain BH 4 responsiveness, but the molecular basis for the corrective effect(s) of BH 4 has not been understood. We have investigated the biochemical, kinetic, and structural changes associated with BH 4 -responsive mutations (F39L, I65T, R68S, H170D, E178G, V190A, R261Q, A300S, L308F, A313T, A373T, V388M, E390G, P407S, and Y414C). The biochemical and kinetic characterization of the 15 mutants studied points toward a multifactorial basis for the BH 4 responsiveness; the mutants show residual activity (>30% of WT) and display various kinetic defects, including increased K m (BH 4 ) and reduced cooperativity of substrate binding, but no decoupling of cofactor (BH 4 ) oxidation. For some, BH 4 seems to function through stabilization and protection of the enzyme from inactivation and proteolytic degradation. In the crystal structures of a phenylketonuria mutant, A313T, minor changes were seen when compared with the WT PAH structures, consistent with the mild effects the mutant has upon activity of the enzyme both in vitro and in vivo . Truncations made in the A313T mutant PAH form revealed that the N and C termini of the enzyme influence active site binding. Of fundamental importance is the observation that BH 4 appears to increase Phe catabolism if at least one of the two heterozygous mutations has any residual activity remaining.
Published: 2004
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9. Mental retardation and hypotonia seen in the knock out mouse for Canavan disease is not due to succinate semialdehyde dehydrogenase deficiency

Author: Jingna Wei, Reuben Matalon, Kimberlee Michals-Matalon, Sankar Surendran, Michael J. Quast, Ed L. Ezell, and S. K. Tyring
Subjects: Mice, Knockout, medicine.medical_specialty, Canavan Disease, General Neuroscience, Glutamate dehydrogenase, Leukodystrophy, Glutamate receptor, Biology, medicine.disease, Aldehyde Oxidoreductases, Canavan disease, Hypotonia, Aspartoacylase, Succinate-semialdehyde dehydrogenase, Mice, Endocrinology, Intellectual Disability, Internal medicine, Knockout mouse, medicine, Animals, Muscle Hypotonia, Succinate-Semialdehyde Dehydrogenase, medicine.symptom
Abstract: Canavan disease (CD) is an autosomal recessive disorder caused by aspartoacylase deficiency leading to accumulation of N-acetylaspartic acid and spongy degeneration of the brain. The mouse model for CD showed low levels of glutamate and gamma-aminobutyric acid (GABA) in the brain. Whether the low levels of glutamate and GABA observed in the CD mouse brain lead to abnormal production of glutamate-GABA associated enzymes and resulting succinate production is not obvious. While glutamate dehydrogenase and alpha-ketoglutarate dehydrogenase complex activities are lower in the cerebellum and brain stem of the CD mouse, alanine aminotransferase and succinate semialdehyde dehydrogenase (SSADH) activities and succinate level are similar to the levels observed in the wild type. Deficiency of SSADH has been suggested to be associated with mental retardation and hypotonia, similar to the clinical features of CD. The normal SSADH activity in the CD mouse brain suggests that mental retardation and hypotonia seen in the CD mouse is not due to SSADH activity and if documented also in patients with CD.
Published: 2004
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10. Therapeutic Options in Prevention and Treatment of Aspartoacylase Gene Mutation Resulting Abnormalities in Canavan Disease

Author: Sankar Surendran, Kimberlee Michals-Matalon, Stephen K. Tyring, and Reuben Matalon
Subjects: Pharmacology, biology, business.industry, GABRA6, Glutamate receptor, Gene mutation, medicine.disease, Canavan disease, Aspartoacylase, Genetics, Cancer research, medicine, biology.protein, business
Published: 2004
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11. Biopterin responsive phenylalanine hydroxylase deficiency

Author: Kimberlee Michals-Matalon, Lisbeth Birk Møller, Sankar Surendran, Reuben Matalon, Heidi Erlandsen, Anne Romstad, Alejandra Gámez, Raymond C. Stevens, Stephen K. Tyring, Kathryn Moseley, Richard Koch, and Flemming Güttler
Subjects: Adult, Male, medicine.medical_specialty, Adolescent, Phenylalanine hydroxylase, Phenylketonurias, Phenylalanine, DNA Mutational Analysis, Administration, Oral, Biopterin, chemistry.chemical_compound, Internal medicine, medicine, Humans, Tyrosine, Child, Gene, Genetics (clinical), chemistry.chemical_classification, biology, business.industry, Infant, Tetrahydrobiopterin, Endocrinology, Enzyme, Biochemistry, chemistry, Child, Preschool, biology.protein, Female, business, medicine.drug
Abstract: Purpose: Phenylketonuria (PKU) is an autosomal recessive disorder caused by mutations in the phenylalanine hydroxylase (PAH) gene. There have been more than 400 mutations identified in the PAH gene leading to variable degrees of deficiency in PAH activity, and consequently a wide spectrum of clinical severity. A pilot study was undertaken to examine the response to 6-R-l-erythro-5,6,7,8-tetrahydrobiopterin (BH4) in patients with atypical and classical PKU. Methods: PAH gene mutation analysis was performed using denaturing gradient gel electrophoresis and gene sequencing. Patients with classical, atypical, or mild PKU were orally given BH4 10 mg/kg. Blood phenylalanine and tyrosine levels were determined using tandem MS/MS at 0 hours, 4 hours, 8 hours, and 24 hours intervals. Results: Thirty-six patients were given a single oral dose of 10 mg/kg of BH4. Twenty one patients (58.33%) responded with a decrease in blood phenylalanine level. Of the patients that responded, 12 were classical, 7 atypical, and 2 mild. The mean decline in blood phenylalanine at 24 hours was > 30% of baseline. There were 15 patients who did not respond to the BH4 challenge, 14 of those had classical and one had atypical PKU. Mapping the mutations that responded to BH4 on the PAH enzyme showed that mutations were in the catalytic, regulatory, oligomerization, and BH4 binding domains. Five patients responding to BH4 had mutations not previously identified. Conclusion: The data presented suggest higher than anticipated number of PKU mutations respond to BH4, and such mutations are on all the domains of PAH.
Published: 2004
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12. Future Role of Large Neutral Amino Acids in Transport of Phenylalanine Into the Brain

Author: Reuben Matalon, Sankar Surendran, Michael J. Quast, Kimberlee Michals Matalon, Stephen K. Tyring, Sylvia Szucs, Edward L. Ezell, and Wei Jinga
Subjects: chemistry.chemical_classification, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Normal diet, Dose, business.industry, Ratón, Central nervous system, nutritional and metabolic diseases, Phenylalanine, Cerebro, Blood–brain barrier, Amino acid, medicine.anatomical_structure, Endocrinology, chemistry, Internal medicine, Pediatrics, Perinatology and Child Health, Medicine, business
Abstract: Objective. The treatment of phenylketo- nuria (PKU) in children and adults has been difficult because of erosion of dietary adherence, leading to poor school performance, impairment of executive function- ing, loss of IQ, and deterioration of white matter in the brain. Mutant PKU mice produced by exposure to N- ethyl-N-nitrosourea (ENU) were used to examine the effect of large neutral amino acid (LNAA) supplementa- tion on brain and blood phenylalanine (Phe). Methods. Mice with PKU, genotype ENU 2/2 with features of classical PKU, were supplemented with LNAA while on a normal diet. Two dosages of LNAA were given 0.5 g/kg and 1.0 g/kg by gavage. Blood Phe was determined in the experimental, control, and sham- treated mice. Brain Phe was determined by magnetic resonance spectroscopy after perchloric acid extraction. Branched-chain amino acid transferase (BCAT) was de- termined in brain as a marker for energy metabolism. Results. Blood Phe was reduced in the LNAA-treated mice by an average of 15% (0.5 g/kg) and 50% (1.0 g/kg) in 48 hours. There was a sustained decrease in the blood Phe levels over a 6-week trial. The untreated mice and sham-treated mice maintained high blood Phe through- out the experiments. Brain Phe level determined by mag- netic resonance spectroscopy showed a decline of 46% after the LNAA treatment. BCAT levels were lower (33%) in the ENU 2/2 mice compared with wild-type. The BCAT normalized in mice with PKU that were treated with LNAA. Conclusion. The results suggest that giving LNAA lowered brain and blood Phe levels in mice with PKU. Energy metabolism generated from BCAT also improved in mice with PKU after treatment with LNAA. Data from the mice suggest that LNAA should be considered among the strategies to treat PKU in humans. Pediatrics 2003; 112:1570 -1574; phenylketonuria, PKU, large neutral amino acids, LNAA, blood-brain barrier.
Published: 2003
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13. Metabolic Changes in the Knockout Mouse for Canavan's Disease

Author: Sankar Surendran, Sylvia Szucs, Reuben Matalon, Kimberlee Michals Matalon, and Stephen K. Tyring
Subjects: medicine.medical_specialty, Canavan Disease, Elevated level, Glutamic Acid, Disease, Biology, Mice, 03 medical and health sciences, 0302 clinical medicine, 030225 pediatrics, Internal medicine, medicine, Animals, Humans, Aspartate Aminotransferases, Mice, Knockout, chemistry.chemical_classification, Aspartic Acid, Body Weight, Glutamate receptor, Pathophysiology, Aspartoacylase, Disease Models, Animal, Endocrinology, Enzyme, Spongy degeneration, chemistry, Pediatrics, Perinatology and Child Health, Knockout mouse, Neurology (clinical), 030217 neurology & neurosurgery
Abstract: Canavan's disease is an autosomal recessive disorder caused by aspartoacylase deficiency, which leads to accumulation of N-acetylaspartic acid in the brain and blood and an elevated level of N-acetylaspartic acid in the urine. The brain of patients with Canavan's disease shows spongy degeneration. How the enzyme deficiency and elevated N-acetylaspartic acid cause the pathophysiology observed in Canavan's disease is not obvious. The creation of a knockout mouse for Canavan's disease is being used as a tool to investigate metabolic pathways in the mouse and correlate them with the patients with Canavan's disease. The level of glutamate is lower in the knockout mouse brain than in the wild-type mouse brain, similar to what we have found in children with Canavan's disease, and so are the levels of γ-aminobutyric acid (GABA). The level of aspartate is higher in the Canavan's disease mouse brain. The activity of aspartate aminotransferase, an enzyme involved in the malate-aspartate shuttle, is lower in the Canavan's disease mouse brain. The lower weight of the Canavan's disease mouse was in direct proportion to low total-body fat and bone mineral density. These changes might be similar to what is seen in patients with Canavan's disease and could have therapeutic implications. ( J Child Neurol 2003;18:611—615).
Published: 2003
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14. Canavan disease: a monogenic trait with complex genomic interaction

Author: Michael J. Quast, Kimberlee Michals-Matalon, Reuben Matalon, Ed L. Ezell, Jingna Wei, Sankar Surendran, and Stephen K. Tyring
Subjects: Canavan Disease, Endocrinology, Diabetes and Metabolism, GABRA6, Glutamic Acid, Biochemistry, Amidohydrolases, Mice, Endocrinology, Gene interaction, Genetics, medicine, Animals, Humans, Molecular Biology, Myelin Sheath, gamma-Aminobutyric Acid, Mice, Knockout, Aspartic Acid, biology, Gene Expression Profiling, Leukodystrophy, Brain, Genetic Therapy, medicine.disease, Molecular biology, Canavan disease, Ashkenazi jews, Aspartoacylase, Gene expression profiling, Muscle Spasticity, Knockout mouse, biology.protein
Abstract: Canavan disease (CD) is an inherited leukodystrophy, caused by aspartoacylase (ASPA) deficiency, and accumulation of N-acetylaspartic acid (NAA) in the brain. The gene for ASPA has been cloned and more than 40 mutations have been described, with two founder mutations among Ashkenazi Jewish patients. Screening of Ashkenazi Jews for these two common mutations revealed a high carrier frequency, approximately 1/40, so that programs for carrier testing are currently in practice. The enzyme deficiency in CD interferes with the normal hydrolysis of NAA, which results in disruption of myelin and spongy degeneration of the white matter of the brain. The clinical features of the disease are macrocephaly, head lag, progressive severe mental retardation, and hypotonia in early life, which later changes to spasticity. A knockout mouse for CD has been generated, and used to study the pathophysiological basis for CD. Findings from the knockout mouse indicate that this monogenic trait leads to a series of genomic interaction in the brain. Changes include low levels of glutamate and GABA. Microarray expression analysis showed low level of expression of GABA-A receptor (GABRA6) and glutamate transporter (EAAT4). The gene Spi2, a gene involved in apoptosis and cell death, showed high level of expression. Such complexity of gene interaction results in the phenotype, the proteome, with spongy degeneration of the brain and neurological impairment of the mouse, similar to the human counterpart. Aspartoacylase gene transfer trial in the mouse brain using adenoassociated virus (AAV) as a vector are encouraging showing improved myelination and decrease in spongy degeneration in the area of the injection and also beyond that site.
Published: 2003
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15. [Untitled]

Author: Sankar Surendran, Stephen K. Tyring, Reuben Matalon, Kimberlee Michals Matalon, J. David McDonald, and Gerald A. Campbell
Subjects: congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Phenylalanine hydroxylase, biology, Cerebrum, digestive, oral, and skin physiology, Central nervous system, Wild type, nutritional and metabolic diseases, Neuropeptide, General Medicine, Biochemistry, Orexin, Cellular and Molecular Neuroscience, Orexin-A, Endocrinology, medicine.anatomical_structure, nervous system, Hypothalamus, Internal medicine, mental disorders, medicine, biology.protein, Psychology
Abstract: Phenylketonuria (PKU) is a metabolic disorder caused by phenylalanine hydroxylase deficiency leading to increased levels of phenylalanine in the brain. Hyperactivity is reportedly induced by a high level of orexin A, and therefore orexin A content was studied in the PKU mice. Hypothalamus and brain stem had higher levels of orexin A compared to cerebrum and cerebellum both in wild type and PKU mice brains as observed by radioimmunoassay method. Interestingly, all these regions of the brain in PKU mouse showed a higher level of orexin A compared to the wild type. Heart and plasma also had higher levels of orexin A in PKU compared to the wild type. Immunohistochemical analysis revealed an increased number of orexin A–stained cells in the brain and heart of PKU mouse compared to the wild type. This is the first report of increased level of orexin in the PKU mouse brain. Hyperactivity is commonly observed in children with PKU; thus these findings suggest that orexin A is a contributing factor for the hyperactivity.
Published: 2003
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16. DOOR syndrome: Deficiency of E1 component of the 2-oxoglutarate dehydrogenase complex

Author: Qutub H. Qazi, Reuben Matalon, Stephan Krywawych, Peter L. Rady, Kimberlee Michals-Matalon, Sankar Surendran, Roberto Tuchman, and S. K. Tyring
Subjects: Male, medicine.medical_specialty, Carboxy-lyases, Nails, Malformed, Disease, Genetic determinism, Craniofacial Abnormalities, Pathogenesis, DOOR syndrome, Internal medicine, Leukocytes, Humans, Medicine, Abnormalities, Multiple, Ketoglutarate Dehydrogenase Complex, Carbon Radioisotopes, Child, Genetics (clinical), Family Health, chemistry.chemical_classification, Bone Diseases, Developmental, business.industry, Clinical Enzyme Tests, Fibroblasts, medicine.disease, Phenotype, Enzyme, Endocrinology, chemistry, Case-Control Studies, Child, Preschool, OGDH, Female, business, Hand Deformities, Congenital
Abstract: Four patients from three families with the clinical features of DOOR syndrome (onycho-osteodystrophy, dystrophic thumbs, sensorineural deafness, and increased urinary levels of 2-oxoglutarate) are the subjects of this report. Our report deals with the autosomal recessive form of the disease, wherein the activity of 2-oxoglutarate decarboxylase (E10) in fibroblasts and white blood cells of the patients is decreased. The activity of E10 in all patients' fibroblasts and white blood cells was significantly lower compared to the controls. This study demonstrates for the first time that E10 deficiency is an important biochemical marker for the autosomal recessive form of DOOR syndrome. © 2002 Wiley-Liss, Inc.
Published: 2002
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17. Aspartoacylase Deficiency in the White Matter of Human Immunodeficiency Virus Encephalitis: Novel Mechanism in Axonal Damage

Author: Sankar Surendran and Srinivasagam Rajasankar
Subjects: Pathology, medicine.medical_specialty, Article Subject, medicine.diagnostic_test, business.industry, Human immunodeficiency virus encephalitis, ASPA DEFICIENCY, Virology, Pathology and Forensic Medicine, Aspartoacylase, White matter, Myelin, medicine.anatomical_structure, Western blot, Aminoacylase II, lcsh:Pathology, medicine, business, Immunostaining, lcsh:RB1-214, Research Article
Abstract: Aspartoacylase/aminoacylase II (ASPA/ACY II) is mainly synthesized in oligodendrocytes to contribute in myelin synthesis. Although axonal damage is seen in the brain with human immunodeficiency virus encephalitis (HIVE), ASPA contribution in the pathology is not known. Immunostaining study showed that ASPA protein is reduced in the white matter of patients with HIVE compared to the control. Western blot study further confirmed ASPA deficiency in the HIVE brain compared to the control. This paper suggests that HIVE condition affects ASPA to contribute in myelin loss/axonal damage seen in the disease.
Published: 2011
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18. Knock-out mouse for Canavan disease: a model for gene transfer to the central nervous system

Author: Michael J. Quast, Sankar Surendran, Reuben Matalon, Gerald A. Campbell, Jingna Wei, Stephen K. Tyring, Sylvia Szucs, Kenneth A. Platt, Michael Nehls, Kimberlee Michals Matalon, Ed L. Ezell, Henry B. Skinner, Peter L. Rady, and Jeffrey D. Ceci
Subjects: Genetics, Genetic enhancement, Leukodystrophy, Macrocephaly, Clone (cell biology), Biology, medicine.disease, Molecular biology, Canavan disease, Aspartoacylase, Exon, Drug Discovery, Knockout mouse, medicine, Molecular Medicine, medicine.symptom, Molecular Biology, Genetics (clinical)
Abstract: Background Canavan disease (CD) is an autosomal recessive leukodystrophy characterized by deficiency of aspartoacylase (ASPA) and increased levels of N-acetylaspartic acid (NAA) in brain and body fluids, severe mental retardation and early death. Gene therapy has been attempted in a number of children with CD. The lack of an animal model has been a limiting factor in developing vectors for the treatment of CD. This paper reports the successful creation of a knock-out mouse for Canavan disease that can be used for gene transfer. Methods Genomic library λ knock-out shuttle (λKOS) was screened and a specific pKOS/Aspa clone was isolated and used to create a plasmid with 10 base pair (bp) deletion of exon four of the murine aspa. Following linearization, the plasmid was electroporated to ES cells. Correctly targeted ES clones were identified following positive and negative selection and confirmed by Southern analysis. Chimeras were generated by injection of ES cells to blastocysts. Germ line transmission was achieved by the birth of heterozygous mice as confirmed by Southern analysis. Results Heterozygous mice born following these experiments have no overt phenotype. The homozygous mice display neurological impairment, macrocephaly, generalized white matter disease, deficient ASPA activity and high levels of NAA in urine. Magnetic resonance imaging (MRI) and spectroscopy (MRS) of the brain of the homozygous mice show white matter changes characteristic of Canavan disease and elevated NAA levels. Conclusion The newly created ASPA deficient mouse establishes an important animal model of Canavan disease. This model should be useful for developing gene transfer vectors to treat Canavan disease. Vectors for the central nervous system (CNS) and modulation of NAA levels in the brain should further add to the understanding of the pathophysiology of Canavan disease. Data generated from this animal model will be useful for developing strategies for gene therapy in other neurodegenerative diseases. Copyright © 2000 John Wiley & Sons, Ltd.
Published: 2000
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19. Aspartoacylase gene knockout in the mouse: Impact on reproduction

Author: Sylvia Szucs, Reuben Matalon, Stephen K. Tyring, and Sankar Surendran
Subjects: medicine.medical_specialty, Canavan Disease, Offspring, Genes, Recessive, Biology, Gangliosidosis, Gene mutation, Toxicology, Amidohydrolases, Mice, Internal medicine, medicine, Animals, Fetal Death, Gene knockout, Mice, Knockout, Models, Genetic, Reproduction, Homozygote, Leukodystrophy, medicine.disease, Canavan disease, Aspartoacylase, Disease Models, Animal, Endocrinology, Mutation, Knockout mouse
Abstract: Canavan disease (CD) is an autosomal recessive disorder caused by aspartoacylase (ASPA) gene mutations resulting enzyme deficiency. The homozygous knockout mouse for CD showed symptoms similar observed in patients with CD. Canavan disease leads to early death. Therefore, a role of ASPA in reproduction was investigated using the mouse model for CD. Homozygous (KO/KO) pups, produced by mating female heterozygous (KO/+) mouse with KO/+ males had approximately 12% death incidence rates in the first 2 months of life. KO/KO mothers mated with KO/+ males showed fetal death. KO/KO mothers produced fewer offspring compared to KO/+ mothers. These data suggest that ASPA is necessary for normal reproduction and postnatal survival.
Published: 2005
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20. Upregulation of N-acetylaspartic acid induces oxidative stress to contribute in disease pathophysiology

Author: Maheep Bhatnagar and Sankar Surendran
Subjects: medicine.medical_specialty, N-Acetylaspartic acid, Parkinson's disease, medicine.disease_cause, Nitric Oxide, Antioxidants, Nitric oxide, chemistry.chemical_compound, Downregulation and upregulation, immune system diseases, Internal medicine, mental disorders, Medicine, Dementia, Animals, Humans, Aspartic Acid, business.industry, Brain Diseases, Metabolic, General Neuroscience, Neurodegenerative Diseases, General Medicine, medicine.disease, Pathophysiology, Canavan disease, nervous system diseases, Up-Regulation, Oxidative Stress, Endocrinology, nervous system, chemistry, business, Oxidative stress
Abstract: N-acetylaspartic acid (NAA) is predominantly present in brain and also present in lower amount in peripheral organs. The role of NAA in pathophysiology is poorly understood. Therefore the review was aimed to understand contribution of NAA in disease process. Amniotic fluid of mothers with Canavan disease (CD) fetus and patients with the disease show increased levels of NAA. Increase of this pathway is also reported in Parkinson's disease and type 2 diabetes. In HIV-related dementia, NAA is affected. Recent studies suggest that upregulation of NAA leads to oxidative stress including upregulation of nitric oxide and reducing potential antioxidants. NAA also leads to physiological abnormalities including walking disorder. These changes suggest that NAA contributes in disease pathophysiology.
Published: 2011

21. Soluble factors from IL-1β-stimulated astrocytes activate NR1a/NR2B receptors: implications for HIV-1-induced neurodegeneration

Author: Jianuo Liu, Sankar Surendran, Huangui Xiong, Tao Jing, Anuja Ghorpade, Li Wu, and Kathleen Borgmann
Subjects: medicine.drug_class, Xenopus, Interleukin-1beta, Biophysics, Biochemistry, Receptors, N-Methyl-D-Aspartate, Article, chemistry.chemical_compound, medicine, Animals, Humans, Interleukin 8, Receptor, Molecular Biology, Cells, Cultured, Chemokine CCL2, biology, Neurodegeneration, Interleukin-8, Neurodegenerative Diseases, Cell Biology, medicine.disease, biology.organism_classification, Receptor antagonist, Cell biology, medicine.anatomical_structure, chemistry, nervous system, Astrocytes, Culture Media, Conditioned, Matrix Metalloproteinase 7, Immunology, CNQX, HIV-1, Oocytes, NMDA receptor, Matrix Metalloproteinase 1, Astrocyte
Abstract: Astrocytes play an important role in astrocyte–neuron homeostasis. In HIV-1-infected brain, interleukin 1 beta (IL-1β) activation of astrocytes contributes to neurodegeneration. However, the molecular mechanisms underlying IL-1β-activated-astrocytes-induced neurodegeneration in HIV-1-infected brain are largely unknown. We hypothesize that secretory factors from the activated astrocytes affect N -methyl- d -aspartate (NMDA) receptor, a major pathway implicated in HIV-1-associated neurodegeneration. To test this hypothesis, we studied effects of IL-1β-stimulated astrocyte conditioned medium (ACM+) for its ability to activate NR1a/NR2B receptors expressed on Xenopus oocytes. Astrocytes treated with IL-1β 20 ng/ml for 24 h induced CXCL8, CCL2, MMP1 and MMP7. Pressure ejection of the ACM(+) produced an inward current in NR1a/NR2B-expressing oocytes. The inward current produced by ACM(+) was blocked by NMDA receptor antagonist, APV but not by non-NMDA receptor antagonist, CNQX. These results suggest that IL-1β stimulated astrocytes activate NR1a/NR2B receptors which may have implications in HIV-1-associated neurodegeneration.
Published: 2010

22. Upregulation of N-acetylaspartic acid resulting nitric oxide toxicity induces aspartoacylase mutations and protein interaction to cause pathophysiology seen in Canavan disease

Author: Sankar Surendran
Subjects: N-Acetylaspartic acid, Aspartic Acid, Canavan Disease, Nitric Oxide Synthase Type II, General Medicine, Biology, medicine.disease, Nitric Oxide, Molecular biology, Canavan disease, Nitric oxide, Aspartoacylase, Amidohydrolases, Up-Regulation, chemistry.chemical_compound, Exon, chemistry, Downregulation and upregulation, Toxicity, Mutation, medicine, Humans, Gene
Abstract: Summary Aspartoacylase (ASPA) converts N-acetylaspartic acid into aspartate and acetate. In Canavan disease (CD), N-acetylaspartic acid (NAA) is found to be increased and over 65 mutations including IVS4+1 G→T, deletion of introns and exons have been reported in the ASPA gene. These changes lead to severe form or mild form of CD. The present study was aimed to understand mechanism in the cause of mutations in ASPA and pathophysiology seen in patients with CD. We have reported that elevated levels of NAA induce inducible nitric oxide (iNOS) to produce nitric oxide toxicity in CD. Nitric oxide toxicity has been shown to induce several mutations including base change G→T and deletion and enhances protein interaction in several genes. Therefore we hypothesize that upregulation of NAA stimulates NOS and the resulting nitric oxide toxicity induces ASPA mutations and protein interaction to result pathophysiological abnormalities seen in patients with CD.
Published: 2010

23. Parkinson's disease: oxidative stress and therapeutic approaches

Author: Sankar Surendran and Srinivasagam Rajasankar
Subjects: medicine.medical_specialty, Proteasome Endopeptidase Complex, Antioxidant, Parkinson's disease, Neurology, medicine.medical_treatment, Dermatology, Disease, medicine.disease_cause, Nitric Oxide, Antioxidants, Catecholamines, medicine, Animals, Humans, Ubiquitins, Aspartic Acid, business.industry, Neurodegeneration, Brain, Parkinson Disease, General Medicine, Nitric oxide metabolism, medicine.disease, Canavan disease, Psychiatry and Mental health, Oxidative Stress, Neurology (clinical), Lipid Peroxidation, business, Neuroscience, Oxidative stress
Abstract: Parkinson's disease (PD) is a neurodegenerative disorder, caused by reduced levels of catecholamines and oxidative stress. Symptoms seen in the disease include tremor, rigidity, bradykinesia and postural disability. Oxidative stress plays a key role in neurodegeneration and motor abnormalities seen in PD. Altered levels of the protein caused by these changes lead to defective ubiquitin-proteasome pathway. Neurodegeneration seen in PD and Canavan disease has a common mechanism. Recent studies suggest that herbal medicines can improve molecular changes and motor functions seen in PD.
Published: 2009

24. Gastroprotective activity of Cinnamomum tamala leaves on experimental gastric ulcers in rats

Author: A. K. S. Rawat, M. Vijayakumar, Sanjeev Kumar Ojha, Sankar Surendran, M Bavani Eswaran, and Ch V Rao
Subjects: Diarrhea, food.ingredient, Antioxidant, medicine.medical_treatment, Protective Agents, Antioxidants, Lesion, Rats, Sprague-Dawley, Random Allocation, food, Drug Discovery, medicine, Animals, Anthelmintic, Stomach Ulcer, Cinnamomum, Pharmacology, Gastric Juice, Traditional medicine, biology, Ethanol, business.industry, Superoxide Dismutase, Stomach, Free Radical Scavengers, biology.organism_classification, Anti-Ulcer Agents, Mucus, digestive system diseases, Enzyme assay, Rats, Plant Leaves, Biochemistry, Duodenal Ulcer, biology.protein, Diuretic, medicine.symptom, business, Cinnamomum tamala, medicine.drug
Abstract: Ethnopharmacological relevance Cinnamomum tamala T. Nees & Eberm (Family Lauraceae) is used traditionally in Indian System of Medicine as carminative, anthelmintic, diuretic, and used in colic, dyspepsia, and diarrhea. Aim of the study This study was aimed to evaluate the gastroprotective effects of Cinnamomum tamala leaves. Methods Cinnamomum tamala leaves extract (CTE; 50,100 and 200 mg/kg body weight) was administered orally, twice daily for 5 days for prevention from ethanol (EtOH)-, cold-restraint stress (CRS)- and pylorus ligation (PL)-induced ulcers. Estimation of H+K+ATPase activity and gastric wall mucous were performed in EtOH-induced ulcer model, antioxidant enzyme activities was carried out in CRS-induced ulcer model, and various gastric secretion parameters like volume of gastric juice, acid output, and pH value were estimated in PL-induced ulcer model. Results A significant reduction in lesion index was observed in ulcer-induced animals treated with CTE at different doses when compared with ulcerated rats in all models. A significant decrease occurred in the level of H+K+ATPase, volume of gastric juice, and acid output. Simultaneously the level of gastric wall mucus and pH were increased significantly. These showed dose-dependent action of CTE. The antioxidant enzyme levels of LPO and SOD were decreased while administering CTE at different doses, compared with their control values. Contrary to this the level of CAT enzyme showed significant increase. Conclusions The results of our study showed that Cinnamomum tamala possess significant gastroprotective activity, probably due to its free radical scavenging activity.
Published: 2009

25. Withania somnifera root extract improves catecholamines and physiological abnormalities seen in a Parkinson's disease model mouse

Author: R. Muthusamy, Sankar Surendran, Thamilarasan Manivasagam, Arumugam Krishnamurti, Venkatachalam Sankar, Srinivasagam Rajasankar, and Seppan Prakash
Subjects: Male, medicine.medical_specialty, Dopamine, Mice, Inbred Strains, Withania somnifera, Withania, medicine.disease_cause, Plant Roots, Thiobarbituric Acid Reactive Substances, Rotarod performance test, chemistry.chemical_compound, Mice, Glutathione Peroxidase GPX1, Parkinsonian Disorders, Internal medicine, Drug Discovery, TBARS, Medicine, Animals, Pharmacology, chemistry.chemical_classification, Glutathione Peroxidase, biology, Traditional medicine, business.industry, Plant Extracts, MPTP, Glutathione peroxidase, Homovanillic acid, Homovanillic Acid, Glutathione, biology.organism_classification, Medicine, Ayurvedic, Disease Models, Animal, Endocrinology, chemistry, Rotarod Performance Test, 3,4-Dihydroxyphenylacetic Acid, business, Oxidative stress, Phytotherapy
Abstract: Ethnopharmacological relevance Withania somnifera root extract (Ws)/Ashwagandha/Indian ginseng is a traditional herbal medicine, used over 4000 years in India, shown to have effect on neural growth and locomotor function. Although catecholamines and oxidative stress resulting in neurodegeneration and locomotor disorder are the main events in Parkinson's disease (PD), efficacy of the drug on these molecules and physiological abnormality are not clear. Aim of the study The objective of the study was to examine effect of Ws on catecholamines and physiological abnormalities seen in PD using PD model mouse. Materials and methods Mouse were treated with 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP) for 4 days to show biochemical and physiological abnormalities similar to patients with PD. PD mice were treated with Ws 100 mg/kg body weight for 7 or 28 days. Catecholamines: dopamine (DA), 3,4-dihydroxy-phenylacetic acid (DOPAC) and homovanillic acid (HVA); antioxidants: glutathione (GSH) and glutathione peroxidase (GPx); and lipid peroxidation marker (TBARS) were analyzed in the Ws treated and untreated PD mouse striatum. Results Mouse treated with MPTP showed reduced levels of DA, DOPAC, HVA, GSH and GPx and induced thiobarbituric acid reactive substance (TBARS) level compared to the control. Physiological abnormalities were seen in the mouse as determined by hang test and rotarod test. Oral treatment of PD mouse Ws root extract (100 mg/kg body weight) for 7 days or 28 days increased DA, DOPAC and HVA levels and normalized TBARS levels in the corpus striatum of the PD mouse. The 7 days Ws treated mice showed improved motor function as determined by hang test and rotarod test. Treatment with Ws for 28 days increased GSH and GPx levels in the striatum compared to the Ws untreated PD mouse striatum. Conclusion These data suggest that Ws is a potential drug in treating catecholamines, oxidative damage and physiological abnormalities seen in the PD mouse.
Published: 2009

26. Coronary Restenosis

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
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27. Carney Complex

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
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28. CPM

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
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29. Cytomegalovirus Pneumonia

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
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30. Congenital Dysplasia of the Hip

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
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31. Centrifugal Lipodystrophy

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
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32. Chromosome Instability Facial Anomalies

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
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33. Chorea Maior

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
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34. Cobalt 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
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35. Chediak-Steinbrinck-Higashi 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
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36. Cortical Malformations and Migration Disorders

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
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37. Chronic Alloimmune Injury

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
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38. Cogan Microcystic Epithelial Dystrophy

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
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39. Combined Deficiency of Sulfite Oxidase and Xanthine Dehydrogenase

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
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40. Cronkhite-Canada 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
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41. Cardiocutaneous 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
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42. Chronic Intestinal Pseudo-Obstruction

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
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43. Cluster Headache

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
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44. Chromosome 18 Long Arm Deletion

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
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45. Congestive Cardiac Failure

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
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46. Congenital Adrenal Hypoplasia

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
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47. Chronic Obstructive Airways Disease

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
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48. Corneal Dystrophy, Schnyder Crystalline

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
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49. Comèl-Netherton 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
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50. Congenital Secretory Chloride Type Diarrhea

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
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