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1. All three MutL complexes are required for repeat expansion in a human stem cell model of CAG-repeat expansion mediated glutaminase deficiency

Author: Bruce Hayward, Daman Kumari, Saikat Santra, Clara D. M. van Karnebeek, André B. P. van Kuilenburg, and Karen Usdin
Subjects: Repeat expansion disease, Microsatellite instability, Mismatch repair (MMR), GDPAG, GLSD, Glutaminase deficiency disorder, Medicine, Science
Abstract: Abstract The Repeat Expansion Diseases (REDs) arise from the expansion of a disease-specific short tandem repeat (STR). Different REDs differ with respect to the repeat involved, the cells that are most expansion prone and the extent of expansion. Furthermore, whether these diseases share a common expansion mechanism is unclear. To date, expansion has only been studied in a limited number of REDs. Here we report the first studies of the expansion mechanism in induced pluripotent stem cells derived from a patient with a form of the glutaminase deficiency disorder known as Global Developmental Delay, Progressive Ataxia, And Elevated Glutamine (GDPAG; OMIM# 618412) caused by the expansion of a CAG-STR in the 5′ UTR of the glutaminase (GLS) gene. We show that alleles with as few as ~ 120 repeats show detectable expansions in culture despite relatively low levels of R-loops formed at this locus. Additionally, using a CRISPR-Cas9 knockout approach we show that PMS2 and MLH3, the constituents of MutLα and MutLγ, the 2 mammalian MutL complexes known to be involved in mismatch repair (MMR), are essential for expansion. Furthermore, PMS1, a component of a less well understood MutL complex, MutLβ, is also important, if not essential, for repeat expansion in these cells. Our results provide insights into the factors important for expansion and lend weight to the idea that, despite some differences, the same mechanism is responsible for expansion in many, if not all, REDs.
Published: 2024
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2. Development of a Biosimilar of Agalsidase Beta for the Treatment of Fabry Disease: Preclinical Evaluation

Author: André B. P. van Kuilenburg, Carla E. M. Hollak, Ana Travella, Melisa Jacobs, Lucas D. Gentilini, René Leen, Karen M. M. Ghauharali-van der Vlugt, Femke S. Beers Stet, Susan M. I. Goorden, Sanne van der Veen, Marcelo Criscuolo, and Mariana Papouchado
Subjects: Therapeutics. Pharmacology, RM1-950
Abstract: Abstract Background and Objective Fabry disease (FD) is a rare lysosomal storage disorder caused by a deficiency of the enzyme α-galactosidase A (aGal A). Since 2001, two different enzyme replacement therapies have been authorized, with agalsidase beta being used in most parts of the Western world. Currently, biosimilars of several expensive enzyme therapies are under development to improve their accessibility for patients. We present the preclinical results of the development of a biosimilar to agalsidase beta. Methods Produced in a Chinese hamster ovary (CHO)-cell system, the biosimilar aGal A Biosidus (AGABIO), was compared with agalsidase beta with respect to amino acid sequence, glycosylation, specific α-galactosidase activity, stability in plasma, and effects on cultured human Fabry fibroblasts and Fabry mice. Results AGABIO had the same amino acid composition and similar glycosylation, enzymatic activity, and stability as compared with agalsidase beta. After uptake in fibroblasts, α-galactosidase A activity increased in a dose-dependent manner, with maximum uptake observed after 24 h, which remained stable until at least 48 h. Both enzymes were localized to lysosomes. Reduction of accumulated globotriaosylceramide (Gb3) and lysoGb3 in cultured Fabry fibroblasts by AGABIO and agalsidase beta showed comparable dose–response curves. In Fabry knockout mice, after a single injection, both enzymes were rapidly cleared from the plasma and showed equal reductions in tissue and plasma sphingolipids. Repeated dose studies in rats did not raise any safety concerns. Anti-drug antibodies from patients with FD treated with agalsidase beta showed equal neutralization activity toward AGABIO. Conclusion These findings support the biosimilarity of AGABIO in comparison with agalsidase beta. The clinical study phase is currently under development.
Published: 2023
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3. Severe dilated cardiomyopathy as an unusual clinical presentation in an infant with sialidosis type II

Author: Margot Eyskens, Luc Bruyndonckx, André B. P. Van Kuilenburg, and François Eyskens
Subjects: dilated cardiomyopathy, lysosomal storage disease, NEU1 gene, neuraminidase, oligosaccharidosis, sialidosis type II, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470
Abstract: Abstract We report a unique case of an infant with a severe dilated cardiomyopathy as the clinical presentation of sialidosis type II (OMIM 256550), a rare autosomal recessive inherited lysosomal storage disease that is characterized by partial or complete deficiency of α‐neuraminidase, following mutations in the gene neuraminidase 1 (NEU1), located on the short arm of chromosome 6 (6p21.3). Accumulation of metabolic intermediates leads to severe morbidity, especially myoclonus, gait disturbances, cherry‐red macules with secondary loss of visual acuity, impaired color vision and night blindness, and sometimes additional neurological findings such as seizures. Dilated cardiomyopathies are characterized by dilation and impaired contraction of the left or both ventricles, whereas most of the metabolic cardiomyopathies are hypertrophic forms appearing with diastolic dysfunction and, in case of lysosomal storage diseases, often associated with valvular thickening and prolapse. Cardiac manifestations in systemic storage disorders are common although rarely described in mucolipidoses. In mucolipidosis type 2 or I‐cell disease only three cases were presented with severe dilated cardiomyopathy and endocardial fibroelastosis in infancy, as opposed to sialidosis type II, by which to the best of our knowledge no presentation of dilated cardiomyopathy was previously reported in literature.
Published: 2023
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4. Thrombocytopenia after meta-iodobenzylguanidine (MIBG) therapy in neuroblastoma patients may be caused by selective MIBG uptake via the serotonin transporter located on megakaryocytes

Author: Thomas Blom, Rutger Meinsma, Franca di Summa, Emile van den Akker, André B. P. van Kuilenburg, Marten Hansen, and Godelieve A. M. Tytgat
Subjects: Megakaryocytes, Thrombocytopenia, Platelets, Meta-iodobenzylguanidine, MIBG, Neuroblastoma, Medical physics. Medical radiology. Nuclear medicine, R895-920
Abstract: Abstract Background The therapeutic use of [131I]meta-iodobenzylguanidine ([131I]MIBG) is often accompanied by hematological toxicity, primarily consisting of severe and persistent thrombocytopenia. We hypothesize that this is caused by selective uptake of MIBG via the serotonin transporter (SERT) located on platelets and megakaryocytes. In this study, we have investigated whether in vitro cultured human megakaryocytes are capable of selective plasma membrane transport of MIBG and whether pharmacological intervention with selective serotonin reuptake inhibitors (SSRIs) may prevent this radiotoxic MIBG uptake. Methods Peripheral blood CD34+ cells were differentiated to human megakaryocytic cells using a standardized culture protocol. Prior to [3H]serotonin and [125I]MIBG uptake experiments, the differentiation status of megakaryocyte cultures was assessed by flow cytometry. Real-time quantitative polymerase chain reaction (RT-qPCR) was used to assess SERT and NET (norepinephrine transporter) mRNA expression. On day 10 of differentiation, [3H]serotonin and [125I]MIBG uptake assays were conducted. Part of the samples were co-incubated with the SSRI citalopram to assess SERT-specific uptake. HEK293 cells transfected with SERT, NET, and empty vector served as controls. Results In vitro cultured human megakaryocytes are capable of selective plasma membrane transport of MIBG. After 10 days of differentiation, megakaryocytic cell culture batches from three different hematopoietic stem and progenitor cell donors showed on average 9.2 ± 2.4 nmol of MIBG uptake per milligram protein per hour after incubation with 10–7 M MIBG (range: 6.6 ± 1.0 to 11.2 ± 1.0 nmol/mg/h). Co-incubation with the SSRI citalopram led to a significant reduction (30.1%—41.5%) in MIBG uptake, implying SERT-specific uptake of MIBG. A strong correlation between the number of mature megakaryocytes and SERT-specific MIBG uptake was observed. Conclusion Our study demonstrates that human megakaryocytes cultured in vitro are capable of MIBG uptake. Moreover, the SSRI citalopram selectively inhibits MIBG uptake via the serotonin transporter. The concomitant administration of citalopram to neuroblastoma patients during [131I]MIBG therapy might be a promising strategy to prevent the onset of thrombocytopenia.
Published: 2021
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5. Selective serotonin reuptake inhibitors (SSRIs) prevent meta-iodobenzylguanidine (MIBG) uptake in platelets without affecting neuroblastoma tumor uptake

Author: Thomas Blom, Rutger Meinsma, Marja Rutgers, Corine Buitenhuis, Marieke Dekken-Van den Burg, André B. P. van Kuilenburg, and Godelieve A. M. Tytgat
Subjects: Meta-iodobenzylguanidine (MIBG), Hematological toxicity, Thrombocytopenia, Platelets, Selective serotonin reuptake inhibitor (SSRI), Medical physics. Medical radiology. Nuclear medicine, R895-920
Abstract: Abstract Background The therapeutic use of [131I]meta-iodobenzylguanidine ([131I]MIBG) is often accompanied by hematological toxicity, mainly consisting of persistent and severe thrombocytopenia. While MIBG accumulates in neuroblastoma cells via selective uptake by the norepinephrine transporter (NET), the serotonin transporter (SERT) is responsible for cellular uptake of MIBG in platelets. In this study, we have investigated whether pharmacological intervention with selective serotonin reuptake inhibitors (SSRIs) may prevent radiotoxic MIBG uptake in platelets without affecting neuroblastoma tumor uptake. Methods To determine the transport kinetics of SERT for [125I]MIBG, HEK293 cells were transfected with SERT and uptake assays were conducted. Next, a panel of seven SSRIs was tested in vitro for their inhibitory potency on the uptake of [125I]MIBG in isolated human platelets and in cultured neuroblastoma cells. We investigated in vivo the efficacy of the four best performing SSRIs on the accumulation of [125I]MIBG in nude mice bearing subcutaneous neuroblastoma xenografts. In ex vivo experiments, the diluted plasma of mice treated with SSRIs was added to isolated human platelets to assess the effect on [125I]MIBG uptake. Results SERT performed as a low-affinity transporter of [125I]MIBG in comparison with NET (K m = 9.7 μM and 0.49 μM, respectively). Paroxetine was the most potent uptake inhibitor of both serotonin (IC50 = 0.6 nM) and MIBG (IC50 = 0.2 nM) in platelets. Citalopram was the most selective SERT inhibitor of [125I]MIBG uptake, with high SERT affinity in platelets (IC50 = 7.8 nM) and low NET affinity in neuroblastoma cells (IC50 = 11.940 nM). The in vivo tested SSRIs (citalopram, fluvoxamine, sertraline, and paroxetine) had no effect on [125I]MIBG uptake levels in neuroblastoma xenografts. In contrast, treatment with desipramine, a NET selective inhibitor, resulted in profoundly decreased xenograft [125I]MIBG levels (p < 0.0001). In ex vivo [125I]MIBG uptake experiments, 100- and 34-fold diluted murine plasma of mice treated with citalopram added to isolated human platelets led to a decrease in MIBG uptake of 54–76%, respectively. Conclusion Our study demonstrates for the first time that SSRIs selectively inhibit MIBG uptake in platelets without affecting MIBG accumulation in an in vivo neuroblastoma model. The concomitant application of citalopram during [131I]MIBG therapy seems a promising strategy to prevent thrombocytopenia in neuroblastoma patients.
Published: 2020
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6. DNA damage and transcription stress cause ATP-mediated redesign of metabolism and potentiation of anti-oxidant buffering

Author: Chiara Milanese, Cíntia R. Bombardieri, Sara Sepe, Sander Barnhoorn, César Payán-Goméz, Donatella Caruso, Matteo Audano, Silvia Pedretti, Wilbert P. Vermeij, Renata M. C. Brandt, Akos Gyenis, Mirjam M. Wamelink, Annelieke S. de Wit, Roel C. Janssens, René Leen, André B. P. van Kuilenburg, Nico Mitro, Jan H. J. Hoeijmakers, and Pier G. Mastroberardino
Subjects: Science
Abstract: ERCC1 is involved in a number of DNA repair pathways including nucleotide excision repair. Here the authors showed that reduced transcription in Ercc1-deficient mouse livers and cells increases ATP levels, suppressing glycolysis and rerouting glucose into the pentose phosphate shunt that generates reductive stress.
Published: 2019
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7. Plasma dopa decarboxylase activity in treatment-resistant recent-onset psychosis patients

Author: Marieke van der Pluijm, Arjen L. Sutterland, André B. P. van Kuilenburg, Lida Zoetekouw, Lieuwe de Haan, Jan Booij, and Elsmarieke van de Giessen
Subjects: Therapeutics. Pharmacology, RM1-950, Psychiatry, RC435-571
Abstract: Treatment resistance (TR) in psychosis is a major clinical problem. A biomarker predicting TR against conventional antipsychotic drugs would be relevant, potentially reducing unnecessary delay to adequate treatment with clozapine. Dopa decarboxylase (DDC) activity in the striatum, measured with positron emission tomography, is elevated in responders, but not in treatment-resistant patients. Plasma DDC activity could be a surrogate marker for DDC brain activity, and thus a potential biomarker that could be used in daily clinical practice. Therefore, we determined plasma DDC activity in 40 male patients with recent-onset psychosis, of whom the majority had started treatment, whereby 21 turned out to be treatment responders and 19 treatment resistant during follow up. We observed no significant group differences. Furthermore, symptom severity was not associated with plasma DCC activity. We did observe a trend level difference in the distribution of plasma DDC activity across categories of medication, with subsequent post hoc analysis showing lower DDC activity in risperidone-using patients. This may suggest that risperidone could influence plasma DDC activity. Based on these results, plasma DDC activity does not appear to be a promising biomarker for TR in recent-onset psychosis patients who are already receiving antipsychotic treatment.
Published: 2019
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8. Acute Aerobic Exercise Leads to Increased Plasma Levels of R- and S-β-Aminoisobutyric Acid in Humans

Author: Jan Stautemas, André B. P. Van Kuilenburg, Lida Stroomer, Fred Vaz, Laura Blancquaert, Filip B. D. Lefevere, Inge Everaert, and Wim Derave
Subjects: myokine, exerkine, BAIBA, 3-amino-2-methylpropanoic acid, AGXT2, Physiology, QP1-981
Abstract: Recently, it was suggested that β-aminoisobutyric acid (BAIBA) is a myokine involved in browning of fat. However, there is no evidence for an acute effect of exercise supporting this statement and the metabolic distinct enantiomers of BAIBA were not taken into account. Concerning these enantiomers, there is at this point no consensus about resting concentrations of plasma R- and S-BAIBA. Additionally, a polymorphism of the alanine - glyoxylate aminotransferase 2 (AGXT2) gene (rs37369) is known to have a high impact on baseline levels of total BAIBA, but the effect on the enantiomers is unknown. Fifteen healthy recreationally active subjects, with different genotypes of rs37369, participated in a randomized crossover trial where they exercised for 1 h at 40% of Ppeak or remained at rest. Plasma samples were analyzed for R- and S-BAIBA using dual column HPLC-fluorescence. The plasma concentration of baseline R-BAIBA was 67 times higher compared to S-BAIBA (1734 ± 821 vs. 29.3 ± 7.8 nM). Exercise induced a 13 and 20% increase in R-BAIBA and S-BAIBA, respectively. The AGXT2 rs37369 genotype strongly affected baseline levels of R-BAIBA, but did not have an impact on baseline S-BAIBA. We demonstrate that BAIBA should not be treated as one molecule, given (1) the markedly uneven distribution of its enantiomers in human plasma favoring R-BAIBA, and (2) their different metabolic source, as evidenced by the AGXT2 polymorphism only affecting R-BAIBA. The proposed function in organ cross talk is supported by the current data and may apply to both enantiomers, but the tissue of origin remains unclear.
Published: 2019
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9. Repeat expansions nested within tandem CNVs: A unique structural change in GLS exemplifies the diagnostic challenges of non-coding pathogenic variation

Author: Sarah Fazal, Matt C Danzi, André B P van Kuilenburg, Selina Reich, Andreas Traschütz, Benjamin Bender, René Leen, Camilo Toro, Karen Usdin, Bruce Hayward, David R Adams, Clara D M van Karnebeek, Carlos R Ferreira, Precilla D’Sousa, Undiagnosed Diseases Network, Mustafa Tekin, Stephan Züchner, Matthis Synofzik, Laboratory Genetic Metabolic Diseases, CCA - Cancer biology and immunology, CCA - Imaging and biomarkers, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, AII - Cancer immunology, Paediatrics, Paediatric Metabolic Diseases, Paediatric Pulmonology, APH - Personalized Medicine, and ANS - Cellular & Molecular Mechanisms
Subjects: Ataxia/diagnosis, ddc:570, Proteins/genetics, Genetics, Humans, General Medicine, diagnosis [Ataxia], genetics [Ataxia], 5' Untranslated Regions, genetics [Glutaminase], Molecular Biology, Glutaminase/genetics, Genetics (clinical)
Abstract: Glutaminase deficiency has recently been associated with ataxia and developmental delay due to repeat expansions in the 5′UTR of the glutaminase (GLS) gene. Patients with the described GLS repeat expansion may indeed remain undiagnosed due to the rarity of this variant, the challenge of its detection and the recency of its discovery. In this study, we combined advanced bioinformatics screening of ~3000 genomes and ~1500 exomes with optical genome mapping and long-read sequencing for confirmation studies. We identified two GLS families, previously intensely and unsuccessfully analyzed. One family carries an unusual and complex structural change involving a homozygous repeat expansion nested within a quadruplication event in the 5′UTR of GLS. Glutaminase deficiency and its metabolic consequences were validated by in-depth biochemical analysis. The identified GLS patients showed progressive early-onset ataxia, cognitive deficits, pyramidal tract damage and optic atrophy, thus demonstrating susceptibility of several specific neuron populations to glutaminase deficiency. This large-scale screening study demonstrates the ability of bioinformatics analysis—validated by latest state-of-the-art technologies (optical genome mapping and long-read sequencing)—to effectively flag complex repeat expansions using short-read datasets and thus facilitate diagnosis of ultra-rare disorders.
Published: 2023
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10. Multi-omics in classical galactosemia: Evidence for the involvement of multiple metabolic pathways

Author: Merel E. Hermans, Michel van Weeghel, Frédéric M. Vaz, Sacha Ferdinandusse, Carla E. M. Hollak, Hidde H. Huidekoper, Mirian C. H. Janssen, André B. P. van Kuilenburg, Mia L. Pras‐Raves, Mirjam M. C. Wamelink, Ronald J. A. Wanders, Mendy M. Welsink‐Karssies, Annet M. Bosch, Graduate School, Medical Psychology, Laboratory Genetic Metabolic Diseases, ACS - Diabetes & metabolism, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, APH - Personalized Medicine, APH - Methodology, Endocrinology, Laboratory for General Clinical Chemistry, ARD - Amsterdam Reproduction and Development, Paediatrics, Rehabilitation medicine, Paediatric Metabolic Diseases, Laboratory Medicine, AGEM - Endocrinology, metabolism and nutrition, AGEM - Inborn errors of metabolism, Amsterdam Neuroscience - Cellular & Molecular Mechanisms, and Pediatrics
Subjects: Galactosemias, galactose-1-phosphate, Galactose, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], multi-omics, metabolomics, Phosphates, GALT-deficiency, Adenosine Diphosphate, Adenosine Triphosphate, Genetics, lipidomics, Humans, UTP-Hexose-1-Phosphate Uridylyltransferase, Genetics (clinical), Metabolic Networks and Pathways, Biomarkers, galactosemia
Abstract: Contains fulltext : 286854.pdf (Publisher’s version ) (Open Access) Classical galactosemia (CG) is one of the more frequent inborn errors of metabolism affecting approximately 1:40.000 people. Despite a life-saving galactose-restricted diet, patients develop highly variable long-term complications including intellectual disability and movement disorders. The pathophysiology of these complications is still poorly understood and development of new therapies is hampered by a lack of valid prognostic biomarkers. Multi-omics approaches may discover new biomarkers and improve prediction of patient outcome. In the current study, (semi-)targeted mass-spectrometry based metabolomics and lipidomics were performed in erythrocytes of 40 patients with both classical and variant phenotypes and 39 controls. Lipidomics did not show any significant changes or deficiencies. The metabolomics analysis revealed that CG does not only compromise the Leloir pathway, but also involves other metabolic pathways including glycolysis, the pentose phosphate pathway, and nucleotide metabolism in the erythrocyte. Moreover, the energy status of the cell appears to be compromised, with significantly decreased levels of ATP and ADP. This possibly is the consequence of two different mechanisms: impaired formation of ATP from ADP possibly due to reduced flux though the glycolytic pathway and trapping of phosphate in galactose-1-phosphate (Gal-1P) which accumulates in CG. Our findings are in line with the current notion that the accumulation of Gal-1P plays a key role in the pathophysiology of CG not only by depletion of intracellular phosphate levels but also by decreasing metabolite abundance downstream in the glycolytic pathway and affecting other pathways. New therapeutic options for CG could be directed towards the restoration of intracellular phosphate homeostasis.
Published: 2022
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11. Urinary 3-Methoxytyramine Is a Biomarker for MYC Activity in Patients With Neuroblastoma

Author: Iedan R. N. Verly, Yvette A. H. Matser, René Leen, Rutger Meinsma, Marta Fiocco, Jan Koster, Richard Volckmann, Dilara Savci-Heijink, Giuliana Cangemi, Sebastiano Barco, Linda J. Valentijn, Godelieve A. M. Tytgat, André B. P. van Kuilenburg, CCA -Cancer Center Amsterdam, Laboratory Genetic Metabolic Diseases, AII - Cancer immunology, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, Oncogenomics, CCA - Cancer Treatment and Quality of Life, Paediatric Oncology, and CCA - Imaging and biomarkers
Subjects: N-Myc Proto-Oncogene Protein, Neuroblastoma, Cancer Research, Oncology, Dopamine, Biomarkers, Tumor, Humans, Prospective Studies, Retrospective Studies
Abstract: PURPOSE Elevated urinary 3-methoxytyramine (3MT) level at diagnosis was recently put forward as independent risk factor for poor prognosis in neuroblastoma. Here, we investigated the biologic basis underlying the putative association between elevated 3MT levels and poor prognosis. METHODS Urinary 3MT levels and prognosis were investigated in both retrospective Italian (N = 90) and prospective Dutch (N = 95) cohorts. From the Dutch Cancer Oncology Group cohort (N = 122), patients with available urinary 3MT and gene expression data (n = 90) were used to generate a 3MT gene signature. The 3MT gene signature score was then used to predict survival outcome in the Children's Oncology Group (N = 247) and German Pediatric Oncology Group (N = 498) cohorts and compared with other known gene signatures. Immunohistochemistry of MYCN and dopamine β-hydroxylase proteins was performed on primary tumors. RESULTS Elevated urinary 3MT levels were associated with poor prognosis in a retrospective cohort and a prospective cohort. Moreover, elevated urinary 3MT levels were associated with eight differentially expressed genes, providing a 3MT gene signature that successfully predicted poor clinical outcome. Even among low-risk patients, high 3MT signature score was associated with poor 5-year overall survival (72% v 99% among low-risk patients with a low 3MT signature score), and the 3MT signature score was correlated with MYC activity in the tumor (R = 82%, P < .0001). Finally, a strong MYCN and weak dopamine β-hydroxylase staining of tumors derived from patients with elevated urinary 3MT levels was observed, linking MYC activity in the tumor to both catecholamine biosynthesis and elevated urinary 3MT levels. CONCLUSION Elevated urinary 3MT is a promising biomarker for poor prognosis and reflects increased MYC activity in the tumor. Therefore, urinary 3MT levels should be measured at diagnosis and may assist in assessing risk.
Published: 2022
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12. The Cytidine Analog Fluorocyclopentenylcytosine (RX-3117) Is Activated by Uridine-Cytidine Kinase 2.

Author: Dzjemma Sarkisjan, Joris R Julsing, Kees Smid, Daniël de Klerk, André B P van Kuilenburg, Rutger Meinsma, Young B Lee, Deog J Kim, and Godefridus J Peters
Subjects: Medicine, Science
Abstract: Fluorocyclopentenylcytosine (RX-3117) is an orally available cytidine analog, currently in Phase I clinical trial. RX-3117 has promising antitumor activity in various human tumor xenografts including gemcitabine resistant tumors. RX-3117 is activated by uridine-cytidine kinase (UCK). Since UCK exists in two forms, UCK1 and UCK2, we investigated which form is responsible for RX-3117 phosphorylation. For that purpose we transfected A549 and SW1573 cell lines with UCK-siRNAs. Transfection of UCK1-siRNA efficiently downregulated UCK1-mRNA, but not UCK2-mRNA expression, and did not affect sensitivity to RX-3117. However, transfection of UCK2-siRNA completely downregulated UCK2-mRNA and protein and protected both A549 and SW1573 against RX-3117. UCK enzyme activity in two panels of tumor cell lines and xenograft cells correlated only with UCK2-mRNA expression (r = 0.803 and 0.915, respectively), but not with UCK1-mRNA. Moreover, accumulation of RX-3117 nucleotides correlated with UCK2 expression. In conclusion, RX-3117 is activated by UCK2 which may be used to select patients potentially sensitive to RX-3117.
Published: 2016
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13. Treatment Algorithm for Homozygous or Compound Heterozygous

Author: Linda M, Henricks, Emma, Kienhuis, Femke M, de Man, Astrid A M, van der Veldt, Paul, Hamberg, André B P, van Kuilenburg, Ron H N, van Schaik, Carin A T C, Lunenburg, Henk-Jan, Guchelaar, Jan H M, Schellens, and Ron H J, Mathijssen
Published: 2022

14. Capecitabine-based treatment of a patient with a novel DPYD genotype and complete dihydropyrimidine dehydrogenase deficiency

Author: Linda M, Henricks, Ester J M, Siemerink, Hilde, Rosing, Judith, Meijer, Susan M I, Goorden, Abeltje M, Polstra, Lida, Zoetekouw, Annemieke, Cats, Jan H M, Schellens, and André B P, van Kuilenburg
Subjects: Antimetabolites, Antineoplastic, Dihydropyrimidine Dehydrogenase Deficiency, Genotype, Humans, Female, Genetic Testing, Middle Aged, Prognosis, Capecitabine, Dihydrouracil Dehydrogenase (NADP)
Abstract: Fluoropyrimidines are frequently used anti-cancer drugs. It is known that patients with reduced activity of dihydropyrimidine dehydrogenase (DPD), the key metabolic enzyme in fluoropyrimidine inactivation, are at increased risk of developing severe fluoropyrimidine-related toxicity. Upfront screening for DPD deficiency and dose reduction in patients with partial DPD deficiency is recommended and improves patient safety. For patients with complete DPD deficiency, fluoropyrimidine-treatment has generally been discouraged. During routine pretreatment screening, we identified a 59-year-old patient with a sigmoid adenocarcinoma who proved to have a complete DPD deficiency. Genetic analyses showed that this complete absence of DPD activity was likely to be caused by a novel DPYD genotype, consisting of a combination of amplification of exons 17 and 18 of DPYD and heterozygosity for DPYD*2A. Despite absence of DPD activity, the patient was treated with capecitabine-based chemotherapy, but capecitabine dose was drastically reduced to 150 mg once every 5 days (0.8% of original dose). Pharmacokinetic analyses showed that the area under the concentration-time curve (AUC) and half-life of 5-fluorouracil were respectively tenfold and fourfold higher than control values of patients receiving capecitabine 850 mg/m2. When extrapolating from the dosing schedule of once every 5 days to twice daily, the AUC of 5-fluorouracil was comparable to controls. Treatment was tolerated well for eight cycles by the patient without occurrence of capecitabine-related toxicity. This case report demonstrates that a more comprehensive genotyping and phenotyping approach, combined with pharmacokinetically-guided dose administration, enables save fluoropyrimidine-treatment with adequate drug exposure in completely DPD deficient patients.
Published: 2018

15. Catecholamines profiles at diagnosis: Increased diagnostic sensitivity and correlation with biological and clinical features in neuroblastoma patients

Author: Johannes H. M. Merks, Gertjan L. Kaspers, C. Michel Zwaan, Nico G.G.M. Abeling, Susan M. I. Goorden, Max M. van Noesel, Marta Fiocco, Godelieve A.M. Tytgat, Frédéric M. Vaz, Huib N. Caron, André B. P. van Kuilenburg, I.R.N. Verly, CCA - Imaging and biomarkers, Other departments, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, CCA -Cancer Center Amsterdam, Laboratory Genetic Metabolic Diseases, Paediatric Oncology, Pediatric surgery, CCA - Cancer Treatment and quality of life, and Pediatrics
Subjects: Male, 0301 basic medicine, Cancer Research, medicine.medical_specialty, Adolescent, Metabolite, Urology, Urine, Normetanephrine, Sensitivity and Specificity, Neuroblastoma, 03 medical and health sciences, chemistry.chemical_compound, Catecholamines, 0302 clinical medicine, Internal medicine, Biomarkers, Tumor, medicine, Humans, Vanillylmandelic acid, Child, Metanephrine, Retrospective Studies, business.industry, Homovanillic acid, Infant, Newborn, Infant, medicine.disease, 030104 developmental biology, Endocrinology, Oncology, chemistry, Child, Preschool, 030220 oncology & carcinogenesis, Catecholamine, Female, business, medicine.drug
Abstract: INTRODUCTION: Neuroblastoma (NBL) accounts for 10% of the paediatric malignancies and is responsible for 15% of the paediatric cancer-related deaths. Vanillylmandelic acid (VMA) and homovanillic acid (HVA) are most commonly analysed in urine of NBL patients. However, their diagnostic sensitivity is suboptimal (82%). Therefore, we performed in-depth analysis of the diagnostic sensitivity of a panel of urinary catecholamine metabolites.PATIENTS AND METHODS: Retrospective study of a panel of 8 urinary catecholamine metabolites (VMA, HVA, 3-methoxytyramine [3MT], dopamine, epinephrine, metanephrine, norepinephrine and normetanephrine [NMN]) from 301 NBL patients at diagnosis. Special attention was given to subgroups, metaiodobenzylguanidine (MIBG) non-avid tumours and VMA/HVA negative patients.RESULTS: Elevated catecholamine metabolites, especially 3MT, correlated with nine out of 12 NBL characteristics such as stage, age, MYCN amplification, loss of heterozygosity for 1p and bone-marrow invasion. The combination of the classical markers VMA and HVA had a diagnostic sensitivity of 84%. NMN was the most sensitive single diagnostic metabolite with overall sensitivity of 89%. When all 8 metabolites were combined, a diagnostic sensitivity of 95% was achieved. Among the VMA and HVA negative patients, were also 29% with stage 4 disease, which usually had elevation of other catecholamine metabolites (93%). Diagnostic sensitivity for patients with MIBG non-avid tumour was improved from 33% (VMA and/or HVA) to 89% by measuring the panel.CONCLUSIONS: Our study demonstrates that analysis of a urinary catecholamine metabolite panel, comprising 8 metabolites, ensures the highest sensitivity to diagnose NBL patients.
Published: 2017
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16. Clinical, biochemical and molecular analysis of 13 Japanese patients with β-ureidopropionase deficiency demonstrates high prevalence of the c.977G > A (p.R326Q) mutation

Author: Kayoko Saito, Yasuhiro Takeshima, Akira Yoneyama, Kaoru Eto, Hiroshi Mitsubuchi, Nico G.G.M. Abeling, Doreen Dobritzsch, Rutger Meinsma, Tetsuya Ito, André B. P. van Kuilenburg, Yoko Nakajima, Yoriko Watanabe, Judith Meijer, Tomiko Kuhara, Lida Zoetekouw, Jeroen Roelofsen, Kazuhide Ohta, Tomoko Lee, Kyoko Tashiro, Amsterdam Gastroenterology Endocrinology Metabolism, Cancer Center Amsterdam, and Laboratory Genetic Metabolic Diseases
Subjects: Male, Models, Molecular, Purine-Pyrimidine Metabolism, Inborn Errors, medicine.medical_specialty, Mutant, Mutation, Missense, Endocrinology and Diabetes, Biology, medicine.disease_cause, Asymptomatic, Amidohydrolases, Gene Frequency, Japan, Internal medicine, Prevalence, Genetics, medicine, Humans, Missense mutation, Genetics(clinical), Abnormalities, Multiple, Child, Allele frequency, Gene, Alleles, Genetics (clinical), Medicinsk genetik, Brain Diseases, Mutation, Movement Disorders, Infant, Newborn, Infant, Phenotype, HEK293 Cells, Endocrinology, Child, Preschool, Endokrinologi och diabetes, Medical genetics, Female, Original Article, Nervous System Diseases, medicine.symptom, Medical Genetics
Abstract: beta-ureidopropionase (beta UP) deficiency is an autosomal recessive disease characterized by N-carbamyl-beta-amino aciduria. To date, only 16 genetically confirmed patients with beta UP deficiency have been reported. Here, we report on the clinical, biochemical and molecular findings of 13 Japanese beta UP deficient patients. In this group of patients, three novel missense mutations (p.G31S, p.E271K, and p.I286T) and a recently described mutation (p.R326Q) were identified. The p.R326Q mutation was detected in all 13 patients with eight patients being homozygous for this mutation. Screening for the p.R326Q mutation in 110 Japanese individuals showed an allele frequency of 0.9 %. Transient expression of mutant beta UP enzymes in HEK293 cells showed that the p.E271K and p.R326Q mutations cause profound decreases in activity (a parts per thousand currency sign 1.3 %). Conversely, beta UP enzymes containing the p.G31S and p.I286T mutations possess residual activities of 50 and 70 %, respectively, suggesting we cannot exclude the presence of additional mutations in the non-coding region of the UPB1 gene. Analysis of a human beta UP homology model revealed that the effects of the mutations (p.G31S, p.E271K, and p.R326Q) on enzyme activity are most likely linked to improper oligomer assembly. Highly variable phenotypes ranging from neurological involvement (including convulsions and autism) to asymptomatic, were observed in diagnosed patients. High prevalence of p.R326Q in the normal Japanese population indicates that beta UP deficiency is not as rare as generally considered and screening for beta UP deficiency should be included in diagnosis of patients with unexplained neurological abnormalities. Corrections in: Journal of Inherited Metabolic Disease, 2014 vol. 37, issue 6, page 1023. DOI: 10.1007/s10545-014-9754-z
Published: 2014
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17. A Korean Case of β-Ureidopropionase Deficiency Presenting with Intractable Seizure, Global Developmental Delay, and Microcephaly

Author: Jun Hwa Lee, Nico G.G.M. Abeling, Valeria Vasta, Si Houn Hahn, and André B. P. van Kuilenburg
Subjects: medicine.medical_specialty, Microcephaly, business.industry, Bioinformatics, medicine.disease, Asymptomatic, Article, Epilepsy, Endocrinology, Cerebrospinal fluid, Inborn error of metabolism, Internal medicine, medicine, Global developmental delay, medicine.symptom, business, Gene, Intractable seizures
Abstract: β-Ureidopropionase deficiency (OMIM #613161) is a rare autosomal recessive inborn error of metabolism due to mutations in the UPB1 gene, which encodes the third enzyme involved in the pyrimidine degradation pathway. A total of 28 cases have been reported, mainly presenting with seizures, microcephaly, and intellectual disabilities. However, 11 of them were asymptomatic cases (Nakajima et al., J Inherit Metab Dis 37(5):801–812, 2014). We report on a 9-year-old female presenting with intractable epilepsy, microcephaly, and global developmental delay. She was homozygous for p.R326Q (c.977G>A) and heterozygous for p.G31S (c.91G>A) in the UPB1 gene, detected by targeted next-generation sequencing test and subsequently confirmed by biochemical analysis of urine, plasma, and cerebrospinal fluid (CSF) using reversed-phase HPLC, combined with electrospray tandem mass spectrometry. We report a first Korean female case with β-ureidopropionase deficiency.
Published: 2014
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18. Dominant Olivo-ponto-cerebellar Atrophy dOPCA

Author: Dieter Metze, Tam Nguyen, Birgit Haack, Alexander K. C. Leung, Noriko Miyake, Naomichi Matsumoto, A. J. Larner, Oliver Bartsch, Barbara C. Van Munster, Christine A. F. Von Arnim, Jochen Klucken, Peter Heutink, Chaeyoung Lee, Alexander A. C. Leung, Justine H. S. Fong, Silke Hofmann, Leena Bruckner-Tuderman, Anca Sindrilaru, Cord Sunderkötter, Lev G. Goldfarb, Andreas Barthel, Erwin Schleicher, Andreas Fritsche, Derek LeRoith, Gunter Wolf, Wilgard Hunger-Dathe, John-John B. Schnog, Victor E. A. Gerdes, Michael Benatar, Michael Fromm, Jörg-Dieter Schulzke, Stefan Bröer, André B. P. Van Kuilenburg, Albert H. Van Gennip, André B. P. Kuilenburg, Albert H. Gennip, Michael Straub, Albrecht Hesse, Hugo Ten Cate, Nigel Laing, Frank Mastaglia, Manish Suneja, Christie P. Thomas, Ulrich Müller, Birgit Zirn, Daniela Steinberger, Mary Redmond Hutson, Margaret L. Kirby, Peter L. M. Jansen, Sönke Weihe, Jan Schulte Am Esch, Wolfram Trudo Knoefel, Andrew L. Wong, August H. M. Smelt, Johannes Schumacher, Per Hoffmann, Markus M. Nöthen, Andrea Schuppenies, Markus G. Donner, Dieter Häussinger, Norman Kock, Katja Lohmann, and Christine Klein
Published: 2009
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19. Dental Caries

Author: Dieter Metze, Tam Nguyen, Birgit Haack, Alexander K. C. Leung, Noriko Miyake, Naomichi Matsumoto, A. J. Larner, Oliver Bartsch, Barbara C. Van Munster, Christine A. F. Von Arnim, Jochen Klucken, Peter Heutink, Chaeyoung Lee, Alexander A. C. Leung, Justine H. S. Fong, Silke Hofmann, Leena Bruckner-Tuderman, Anca Sindrilaru, Cord Sunderkötter, Lev G. Goldfarb, Andreas Barthel, Erwin Schleicher, Andreas Fritsche, Derek LeRoith, Gunter Wolf, Wilgard Hunger-Dathe, John-John B. Schnog, Victor E. A. Gerdes, Michael Benatar, Michael Fromm, Jörg-Dieter Schulzke, Stefan Bröer, André B. P. Van Kuilenburg, Albert H. Van Gennip, André B. P. Kuilenburg, Albert H. Gennip, Michael Straub, Albrecht Hesse, Hugo Ten Cate, Nigel Laing, Frank Mastaglia, Manish Suneja, Christie P. Thomas, Ulrich Müller, Birgit Zirn, Daniela Steinberger, Mary Redmond Hutson, Margaret L. Kirby, Peter L. M. Jansen, Sönke Weihe, Jan Schulte Am Esch, Wolfram Trudo Knoefel, Andrew L. Wong, August H. M. Smelt, Johannes Schumacher, Per Hoffmann, Markus M. Nöthen, Andrea Schuppenies, Markus G. Donner, Dieter Häussinger, Norman Kock, Katja Lohmann, and Christine Klein
Published: 2009
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20. Dumping Syndrome

Author: Dieter Metze, Tam Nguyen, Birgit Haack, Alexander K. C. Leung, Noriko Miyake, Naomichi Matsumoto, A. J. Larner, Oliver Bartsch, Barbara C. Van Munster, Christine A. F. Von Arnim, Jochen Klucken, Peter Heutink, Chaeyoung Lee, Alexander A. C. Leung, Justine H. S. Fong, Silke Hofmann, Leena Bruckner-Tuderman, Anca Sindrilaru, Cord Sunderkötter, Lev G. Goldfarb, Andreas Barthel, Erwin Schleicher, Andreas Fritsche, Derek LeRoith, Gunter Wolf, Wilgard Hunger-Dathe, John-John B. Schnog, Victor E. A. Gerdes, Michael Benatar, Michael Fromm, Jörg-Dieter Schulzke, Stefan Bröer, André B. P. Van Kuilenburg, Albert H. Van Gennip, André B. P. Kuilenburg, Albert H. Gennip, Michael Straub, Albrecht Hesse, Hugo Ten Cate, Nigel Laing, Frank Mastaglia, Manish Suneja, Christie P. Thomas, Ulrich Müller, Birgit Zirn, Daniela Steinberger, Mary Redmond Hutson, Margaret L. Kirby, Peter L. M. Jansen, Sönke Weihe, Jan Schulte Am Esch, Wolfram Trudo Knoefel, Andrew L. Wong, August H. M. Smelt, Johannes Schumacher, Per Hoffmann, Markus M. Nöthen, Andrea Schuppenies, Markus G. Donner, Dieter Häussinger, Norman Kock, Katja Lohmann, and Christine Klein
Published: 2009
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21. Tarui’s Disease

Author: Satish R. Raj, S. R. Wayne Chen, Robert S. Sheldon, Arti N. Shah, Bharat K. Kantharia, Ulrich Salzer, Bodo Grimbacher, Alexander K. C. Leung, Deepak Kamat, Genovefa D. Kolovou, Katherine K. Anagnostopoulou, Dennis V. Cokkinos, Takahiro Shinkai, Rosaline C. M. Quinlivan, Robert Beynon, Thomas Kolter, Ute Schepers, Konrad Sandhoff, Christophe Nicot, Werner Kempf, Reinhard Dummer, Günter Burg, Urban W. Geisthoff, Deborah Bartholdi, Albert Schinzel, Stefan R. Bornstein, Nenad Blau, Elizabeth Goldmuntz, John-John B. Schnog, Victor E. A. Gerdes, Jacky Bonaventure, Donatus Nohr, Anthony M. Marinaki, Monica Arenas, Robert F. Groff IV, Jason H. Huang, Hugo Ten Cate, Ayalew Tefferi, Han-Mou Tsai, Mofid Ibraheim, Amaj Ikomi, Bob Olsson, Hans Wadenvik, Julian Ilcheff, Henri Bounameaux, Marc Righini, Christopher J. Boos, Gregory Y. H. Lip, Yuval Ramot, Neta Goldschmidt, Abraham Nyska, André B. P. Van Kuilenburg, Albert H. Van Gennip, Christian A. Koch, Nicholas J. Sarlis, Douglas Forrest, Peter Kopp, Seda Sancak, Markus Eszlinger, Ralf Paschke, Antonella Fioravanti, Maria Antonietta Mazzei, Giuseppina Coppola, Luca Volterrani, Hans-Peter Zenner, Ilse Maria Zalaman, Ulrike Schumacher, Ingo B. Autenrieth, Nitin Wadhani, Hari Red, Shah Azmoon, Harpreet Singh, Bramah N. Singh, David W. Brown, Tal Geva, Claudio Guarneri, Francesco Borgia, Mario Vaccaro, Norbert Müller, Jürgen Kohlhase, Andreas Erhardt, Freddy Mboti, Karina Yazdanbakhsh, Millicent Sutton, Jan-Luuk Hillebrands, Roel de Weger, Jan Rozing, Linda Leatherbury, Cecilia Lo, Jutta Engel, Elan D. Louis, Fabrizio Guarneri, Mark Berneburg, Thomas Schwarz, Gabriele A. Krombach, Alfonso Baldi, Koichiro Niwa, Sefik Guran, Trevor J. Pugh, Marco A. Marra, John Wolstenholme, Hardally R. Hegde, Joachim Richter, Hiroyuki Yamagishi, Keiichi Fukuda, Maximilian Ledochowski, Dietmar Fuchs, Pushpa Agrawal, Md. Suhail Alam†, Saurabh K. Garg†, Ralf Wienecke, Giovambattista Capasso, Mauro Bernardi, Franco Trevisani, Kimitoshi Nakamura, Shiro Matsumoto, Hiroshi Mitsubuchi, and Fumio Endo
Published: 2009
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22. Diabetes Mellitus, Congenital Insulin-dependent, with Fatal Secretory Diarrhea

Author: Dieter Metze, Tam Nguyen, Birgit Haack, Alexander K. C. Leung, Noriko Miyake, Naomichi Matsumoto, A. J. Larner, Oliver Bartsch, Barbara C. Van Munster, Christine A. F. Von Arnim, Jochen Klucken, Peter Heutink, Chaeyoung Lee, Alexander A. C. Leung, Justine H. S. Fong, Silke Hofmann, Leena Bruckner-Tuderman, Anca Sindrilaru, Cord Sunderkötter, Lev G. Goldfarb, Andreas Barthel, Erwin Schleicher, Andreas Fritsche, Derek LeRoith, Gunter Wolf, Wilgard Hunger-Dathe, John-John B. Schnog, Victor E. A. Gerdes, Michael Benatar, Michael Fromm, Jörg-Dieter Schulzke, Stefan Bröer, André B. P. Van Kuilenburg, Albert H. Van Gennip, André B. P. Kuilenburg, Albert H. Gennip, Michael Straub, Albrecht Hesse, Hugo Ten Cate, Nigel Laing, Frank Mastaglia, Manish Suneja, Christie P. Thomas, Ulrich Müller, Birgit Zirn, Daniela Steinberger, Mary Redmond Hutson, Margaret L. Kirby, Peter L. M. Jansen, Sönke Weihe, Jan Schulte Am Esch, Wolfram Trudo Knoefel, Andrew L. Wong, August H. M. Smelt, Johannes Schumacher, Per Hoffmann, Markus M. Nöthen, Andrea Schuppenies, Markus G. Donner, Dieter Häussinger, Norman Kock, Katja Lohmann, and Christine Klein
Published: 2009
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23. Toxic Erythema of Pregnancy

Author: Satish R. Raj, S. R. Wayne Chen, Robert S. Sheldon, Arti N. Shah, Bharat K. Kantharia, Ulrich Salzer, Bodo Grimbacher, Alexander K. C. Leung, Deepak Kamat, Genovefa D. Kolovou, Katherine K. Anagnostopoulou, Dennis V. Cokkinos, Takahiro Shinkai, Rosaline C. M. Quinlivan, Robert Beynon, Thomas Kolter, Ute Schepers, Konrad Sandhoff, Christophe Nicot, Werner Kempf, Reinhard Dummer, Günter Burg, Urban W. Geisthoff, Deborah Bartholdi, Albert Schinzel, Stefan R. Bornstein, Nenad Blau, Elizabeth Goldmuntz, John-John B. Schnog, Victor E. A. Gerdes, Jacky Bonaventure, Donatus Nohr, Anthony M. Marinaki, Monica Arenas, Robert F. Groff IV, Jason H. Huang, Hugo Ten Cate, Ayalew Tefferi, Han-Mou Tsai, Mofid Ibraheim, Amaj Ikomi, Bob Olsson, Hans Wadenvik, Julian Ilcheff, Henri Bounameaux, Marc Righini, Christopher J. Boos, Gregory Y. H. Lip, Yuval Ramot, Neta Goldschmidt, Abraham Nyska, André B. P. Van Kuilenburg, Albert H. Van Gennip, Christian A. Koch, Nicholas J. Sarlis, Douglas Forrest, Peter Kopp, Seda Sancak, Markus Eszlinger, Ralf Paschke, Antonella Fioravanti, Maria Antonietta Mazzei, Giuseppina Coppola, Luca Volterrani, Hans-Peter Zenner, Ilse Maria Zalaman, Ulrike Schumacher, Ingo B. Autenrieth, Nitin Wadhani, Hari Red, Shah Azmoon, Harpreet Singh, Bramah N. Singh, David W. Brown, Tal Geva, Claudio Guarneri, Francesco Borgia, Mario Vaccaro, Norbert Müller, Jürgen Kohlhase, Andreas Erhardt, Freddy Mboti, Karina Yazdanbakhsh, Millicent Sutton, Jan-Luuk Hillebrands, Roel de Weger, Jan Rozing, Linda Leatherbury, Cecilia Lo, Jutta Engel, Elan D. Louis, Fabrizio Guarneri, Mark Berneburg, Thomas Schwarz, Gabriele A. Krombach, Alfonso Baldi, Koichiro Niwa, Sefik Guran, Trevor J. Pugh, Marco A. Marra, John Wolstenholme, Hardally R. Hegde, Joachim Richter, Hiroyuki Yamagishi, Keiichi Fukuda, Maximilian Ledochowski, Dietmar Fuchs, Pushpa Agrawal, Md. Suhail Alam†, Saurabh K. Garg†, Ralf Wienecke, Giovambattista Capasso, Mauro Bernardi, Franco Trevisani, Kimitoshi Nakamura, Shiro Matsumoto, Hiroshi Mitsubuchi, and Fumio Endo
Published: 2009
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24. Trisomy 8

Author: Satish R. Raj, S. R. Wayne Chen, Robert S. Sheldon, Arti N. Shah, Bharat K. Kantharia, Ulrich Salzer, Bodo Grimbacher, Alexander K. C. Leung, Deepak Kamat, Genovefa D. Kolovou, Katherine K. Anagnostopoulou, Dennis V. Cokkinos, Takahiro Shinkai, Rosaline C. M. Quinlivan, Robert Beynon, Thomas Kolter, Ute Schepers, Konrad Sandhoff, Christophe Nicot, Werner Kempf, Reinhard Dummer, Günter Burg, Urban W. Geisthoff, Deborah Bartholdi, Albert Schinzel, Stefan R. Bornstein, Nenad Blau, Elizabeth Goldmuntz, John-John B. Schnog, Victor E. A. Gerdes, Jacky Bonaventure, Donatus Nohr, Anthony M. Marinaki, Monica Arenas, Robert F. Groff IV, Jason H. Huang, Hugo Ten Cate, Ayalew Tefferi, Han-Mou Tsai, Mofid Ibraheim, Amaj Ikomi, Bob Olsson, Hans Wadenvik, Julian Ilcheff, Henri Bounameaux, Marc Righini, Christopher J. Boos, Gregory Y. H. Lip, Yuval Ramot, Neta Goldschmidt, Abraham Nyska, André B. P. Van Kuilenburg, Albert H. Van Gennip, Christian A. Koch, Nicholas J. Sarlis, Douglas Forrest, Peter Kopp, Seda Sancak, Markus Eszlinger, Ralf Paschke, Antonella Fioravanti, Maria Antonietta Mazzei, Giuseppina Coppola, Luca Volterrani, Hans-Peter Zenner, Ilse Maria Zalaman, Ulrike Schumacher, Ingo B. Autenrieth, Nitin Wadhani, Hari Red, Shah Azmoon, Harpreet Singh, Bramah N. Singh, David W. Brown, Tal Geva, Claudio Guarneri, Francesco Borgia, Mario Vaccaro, Norbert Müller, Jürgen Kohlhase, Andreas Erhardt, Freddy Mboti, Karina Yazdanbakhsh, Millicent Sutton, Jan-Luuk Hillebrands, Roel de Weger, Jan Rozing, Linda Leatherbury, Cecilia Lo, Jutta Engel, Elan D. Louis, Fabrizio Guarneri, Mark Berneburg, Thomas Schwarz, Gabriele A. Krombach, Alfonso Baldi, Koichiro Niwa, Sefik Guran, Trevor J. Pugh, Marco A. Marra, John Wolstenholme, Hardally R. Hegde, Joachim Richter, Hiroyuki Yamagishi, Keiichi Fukuda, Maximilian Ledochowski, Dietmar Fuchs, Pushpa Agrawal, Md. Suhail Alam†, Saurabh K. Garg†, Ralf Wienecke, Giovambattista Capasso, Mauro Bernardi, Franco Trevisani, Kimitoshi Nakamura, Shiro Matsumoto, Hiroshi Mitsubuchi, and Fumio Endo
Published: 2009
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25. Thoracic Outlet Compression Syndrome

Author: Satish R. Raj, S. R. Wayne Chen, Robert S. Sheldon, Arti N. Shah, Bharat K. Kantharia, Ulrich Salzer, Bodo Grimbacher, Alexander K. C. Leung, Deepak Kamat, Genovefa D. Kolovou, Katherine K. Anagnostopoulou, Dennis V. Cokkinos, Takahiro Shinkai, Rosaline C. M. Quinlivan, Robert Beynon, Thomas Kolter, Ute Schepers, Konrad Sandhoff, Christophe Nicot, Werner Kempf, Reinhard Dummer, Günter Burg, Urban W. Geisthoff, Deborah Bartholdi, Albert Schinzel, Stefan R. Bornstein, Nenad Blau, Elizabeth Goldmuntz, John-John B. Schnog, Victor E. A. Gerdes, Jacky Bonaventure, Donatus Nohr, Anthony M. Marinaki, Monica Arenas, Robert F. Groff IV, Jason H. Huang, Hugo Ten Cate, Ayalew Tefferi, Han-Mou Tsai, Mofid Ibraheim, Amaj Ikomi, Bob Olsson, Hans Wadenvik, Julian Ilcheff, Henri Bounameaux, Marc Righini, Christopher J. Boos, Gregory Y. H. Lip, Yuval Ramot, Neta Goldschmidt, Abraham Nyska, André B. P. Van Kuilenburg, Albert H. Van Gennip, Christian A. Koch, Nicholas J. Sarlis, Douglas Forrest, Peter Kopp, Seda Sancak, Markus Eszlinger, Ralf Paschke, Antonella Fioravanti, Maria Antonietta Mazzei, Giuseppina Coppola, Luca Volterrani, Hans-Peter Zenner, Ilse Maria Zalaman, Ulrike Schumacher, Ingo B. Autenrieth, Nitin Wadhani, Hari Red, Shah Azmoon, Harpreet Singh, Bramah N. Singh, David W. Brown, Tal Geva, Claudio Guarneri, Francesco Borgia, Mario Vaccaro, Norbert Müller, Jürgen Kohlhase, Andreas Erhardt, Freddy Mboti, Karina Yazdanbakhsh, Millicent Sutton, Jan-Luuk Hillebrands, Roel de Weger, Jan Rozing, Linda Leatherbury, Cecilia Lo, Jutta Engel, Elan D. Louis, Fabrizio Guarneri, Mark Berneburg, Thomas Schwarz, Gabriele A. Krombach, Alfonso Baldi, Koichiro Niwa, Sefik Guran, Trevor J. Pugh, Marco A. Marra, John Wolstenholme, Hardally R. Hegde, Joachim Richter, Hiroyuki Yamagishi, Keiichi Fukuda, Maximilian Ledochowski, Dietmar Fuchs, Pushpa Agrawal, Md. Suhail Alam†, Saurabh K. Garg†, Ralf Wienecke, Giovambattista Capasso, Mauro Bernardi, Franco Trevisani, Kimitoshi Nakamura, Shiro Matsumoto, Hiroshi Mitsubuchi, and Fumio Endo
Published: 2009
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26. DHF

Author: Dieter Metze, Tam Nguyen, Birgit Haack, Alexander K. C. Leung, Noriko Miyake, Naomichi Matsumoto, A. J. Larner, Oliver Bartsch, Barbara C. Van Munster, Christine A. F. Von Arnim, Jochen Klucken, Peter Heutink, Chaeyoung Lee, Alexander A. C. Leung, Justine H. S. Fong, Silke Hofmann, Leena Bruckner-Tuderman, Anca Sindrilaru, Cord Sunderkötter, Lev G. Goldfarb, Andreas Barthel, Erwin Schleicher, Andreas Fritsche, Derek LeRoith, Gunter Wolf, Wilgard Hunger-Dathe, John-John B. Schnog, Victor E. A. Gerdes, Michael Benatar, Michael Fromm, Jörg-Dieter Schulzke, Stefan Bröer, André B. P. Van Kuilenburg, Albert H. Van Gennip, André B. P. Kuilenburg, Albert H. Gennip, Michael Straub, Albrecht Hesse, Hugo Ten Cate, Nigel Laing, Frank Mastaglia, Manish Suneja, Christie P. Thomas, Ulrich Müller, Birgit Zirn, Daniela Steinberger, Mary Redmond Hutson, Margaret L. Kirby, Peter L. M. Jansen, Sönke Weihe, Jan Schulte Am Esch, Wolfram Trudo Knoefel, Andrew L. Wong, August H. M. Smelt, Johannes Schumacher, Per Hoffmann, Markus M. Nöthen, Andrea Schuppenies, Markus G. Donner, Dieter Häussinger, Norman Kock, Katja Lohmann, and Christine Klein
Published: 2009
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27. TBCD

Author: Satish R. Raj, S. R. Wayne Chen, Robert S. Sheldon, Arti N. Shah, Bharat K. Kantharia, Ulrich Salzer, Bodo Grimbacher, Alexander K. C. Leung, Deepak Kamat, Genovefa D. Kolovou, Katherine K. Anagnostopoulou, Dennis V. Cokkinos, Takahiro Shinkai, Rosaline C. M. Quinlivan, Robert Beynon, Thomas Kolter, Ute Schepers, Konrad Sandhoff, Christophe Nicot, Werner Kempf, Reinhard Dummer, Günter Burg, Urban W. Geisthoff, Deborah Bartholdi, Albert Schinzel, Stefan R. Bornstein, Nenad Blau, Elizabeth Goldmuntz, John-John B. Schnog, Victor E. A. Gerdes, Jacky Bonaventure, Donatus Nohr, Anthony M. Marinaki, Monica Arenas, Robert F. Groff IV, Jason H. Huang, Hugo Ten Cate, Ayalew Tefferi, Han-Mou Tsai, Mofid Ibraheim, Amaj Ikomi, Bob Olsson, Hans Wadenvik, Julian Ilcheff, Henri Bounameaux, Marc Righini, Christopher J. Boos, Gregory Y. H. Lip, Yuval Ramot, Neta Goldschmidt, Abraham Nyska, André B. P. Van Kuilenburg, Albert H. Van Gennip, Christian A. Koch, Nicholas J. Sarlis, Douglas Forrest, Peter Kopp, Seda Sancak, Markus Eszlinger, Ralf Paschke, Antonella Fioravanti, Maria Antonietta Mazzei, Giuseppina Coppola, Luca Volterrani, Hans-Peter Zenner, Ilse Maria Zalaman, Ulrike Schumacher, Ingo B. Autenrieth, Nitin Wadhani, Hari Red, Shah Azmoon, Harpreet Singh, Bramah N. Singh, David W. Brown, Tal Geva, Claudio Guarneri, Francesco Borgia, Mario Vaccaro, Norbert Müller, Jürgen Kohlhase, Andreas Erhardt, Freddy Mboti, Karina Yazdanbakhsh, Millicent Sutton, Jan-Luuk Hillebrands, Roel de Weger, Jan Rozing, Linda Leatherbury, Cecilia Lo, Jutta Engel, Elan D. Louis, Fabrizio Guarneri, Mark Berneburg, Thomas Schwarz, Gabriele A. Krombach, Alfonso Baldi, Koichiro Niwa, Sefik Guran, Trevor J. Pugh, Marco A. Marra, John Wolstenholme, Hardally R. Hegde, Joachim Richter, Hiroyuki Yamagishi, Keiichi Fukuda, Maximilian Ledochowski, Dietmar Fuchs, Pushpa Agrawal, Md. Suhail Alam†, Saurabh K. Garg†, Ralf Wienecke, Giovambattista Capasso, Mauro Bernardi, Franco Trevisani, Kimitoshi Nakamura, Shiro Matsumoto, Hiroshi Mitsubuchi, and Fumio Endo
Published: 2009
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28. Deficiency of Protein S Alpha

Author: Dieter Metze, Tam Nguyen, Birgit Haack, Alexander K. C. Leung, Noriko Miyake, Naomichi Matsumoto, A. J. Larner, Oliver Bartsch, Barbara C. Van Munster, Christine A. F. Von Arnim, Jochen Klucken, Peter Heutink, Chaeyoung Lee, Alexander A. C. Leung, Justine H. S. Fong, Silke Hofmann, Leena Bruckner-Tuderman, Anca Sindrilaru, Cord Sunderkötter, Lev G. Goldfarb, Andreas Barthel, Erwin Schleicher, Andreas Fritsche, Derek LeRoith, Gunter Wolf, Wilgard Hunger-Dathe, John-John B. Schnog, Victor E. A. Gerdes, Michael Benatar, Michael Fromm, Jörg-Dieter Schulzke, Stefan Bröer, André B. P. Van Kuilenburg, Albert H. Van Gennip, André B. P. Kuilenburg, Albert H. Gennip, Michael Straub, Albrecht Hesse, Hugo Ten Cate, Nigel Laing, Frank Mastaglia, Manish Suneja, Christie P. Thomas, Ulrich Müller, Birgit Zirn, Daniela Steinberger, Mary Redmond Hutson, Margaret L. Kirby, Peter L. M. Jansen, Sönke Weihe, Jan Schulte Am Esch, Wolfram Trudo Knoefel, Andrew L. Wong, August H. M. Smelt, Johannes Schumacher, Per Hoffmann, Markus M. Nöthen, Andrea Schuppenies, Markus G. Donner, Dieter Häussinger, Norman Kock, Katja Lohmann, and Christine Klein
Published: 2009
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29. Tocopherol Transfer Protein Deficiency

Author: Satish R. Raj, S. R. Wayne Chen, Robert S. Sheldon, Arti N. Shah, Bharat K. Kantharia, Ulrich Salzer, Bodo Grimbacher, Alexander K. C. Leung, Deepak Kamat, Genovefa D. Kolovou, Katherine K. Anagnostopoulou, Dennis V. Cokkinos, Takahiro Shinkai, Rosaline C. M. Quinlivan, Robert Beynon, Thomas Kolter, Ute Schepers, Konrad Sandhoff, Christophe Nicot, Werner Kempf, Reinhard Dummer, Günter Burg, Urban W. Geisthoff, Deborah Bartholdi, Albert Schinzel, Stefan R. Bornstein, Nenad Blau, Elizabeth Goldmuntz, John-John B. Schnog, Victor E. A. Gerdes, Jacky Bonaventure, Donatus Nohr, Anthony M. Marinaki, Monica Arenas, Robert F. Groff IV, Jason H. Huang, Hugo Ten Cate, Ayalew Tefferi, Han-Mou Tsai, Mofid Ibraheim, Amaj Ikomi, Bob Olsson, Hans Wadenvik, Julian Ilcheff, Henri Bounameaux, Marc Righini, Christopher J. Boos, Gregory Y. H. Lip, Yuval Ramot, Neta Goldschmidt, Abraham Nyska, André B. P. Van Kuilenburg, Albert H. Van Gennip, Christian A. Koch, Nicholas J. Sarlis, Douglas Forrest, Peter Kopp, Seda Sancak, Markus Eszlinger, Ralf Paschke, Antonella Fioravanti, Maria Antonietta Mazzei, Giuseppina Coppola, Luca Volterrani, Hans-Peter Zenner, Ilse Maria Zalaman, Ulrike Schumacher, Ingo B. Autenrieth, Nitin Wadhani, Hari Red, Shah Azmoon, Harpreet Singh, Bramah N. Singh, David W. Brown, Tal Geva, Claudio Guarneri, Francesco Borgia, Mario Vaccaro, Norbert Müller, Jürgen Kohlhase, Andreas Erhardt, Freddy Mboti, Karina Yazdanbakhsh, Millicent Sutton, Jan-Luuk Hillebrands, Roel de Weger, Jan Rozing, Linda Leatherbury, Cecilia Lo, Jutta Engel, Elan D. Louis, Fabrizio Guarneri, Mark Berneburg, Thomas Schwarz, Gabriele A. Krombach, Alfonso Baldi, Koichiro Niwa, Sefik Guran, Trevor J. Pugh, Marco A. Marra, John Wolstenholme, Hardally R. Hegde, Joachim Richter, Hiroyuki Yamagishi, Keiichi Fukuda, Maximilian Ledochowski, Dietmar Fuchs, Pushpa Agrawal, Md. Suhail Alam†, Saurabh K. Garg†, Ralf Wienecke, Giovambattista Capasso, Mauro Bernardi, Franco Trevisani, Kimitoshi Nakamura, Shiro Matsumoto, Hiroshi Mitsubuchi, and Fumio Endo
Published: 2009
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30. Thrombosis, Venous, Elevated Factor VIII Level

Author: Satish R. Raj, S. R. Wayne Chen, Robert S. Sheldon, Arti N. Shah, Bharat K. Kantharia, Ulrich Salzer, Bodo Grimbacher, Alexander K. C. Leung, Deepak Kamat, Genovefa D. Kolovou, Katherine K. Anagnostopoulou, Dennis V. Cokkinos, Takahiro Shinkai, Rosaline C. M. Quinlivan, Robert Beynon, Thomas Kolter, Ute Schepers, Konrad Sandhoff, Christophe Nicot, Werner Kempf, Reinhard Dummer, Günter Burg, Urban W. Geisthoff, Deborah Bartholdi, Albert Schinzel, Stefan R. Bornstein, Nenad Blau, Elizabeth Goldmuntz, John-John B. Schnog, Victor E. A. Gerdes, Jacky Bonaventure, Donatus Nohr, Anthony M. Marinaki, Monica Arenas, Robert F. Groff IV, Jason H. Huang, Hugo Ten Cate, Ayalew Tefferi, Han-Mou Tsai, Mofid Ibraheim, Amaj Ikomi, Bob Olsson, Hans Wadenvik, Julian Ilcheff, Henri Bounameaux, Marc Righini, Christopher J. Boos, Gregory Y. H. Lip, Yuval Ramot, Neta Goldschmidt, Abraham Nyska, André B. P. Van Kuilenburg, Albert H. Van Gennip, Christian A. Koch, Nicholas J. Sarlis, Douglas Forrest, Peter Kopp, Seda Sancak, Markus Eszlinger, Ralf Paschke, Antonella Fioravanti, Maria Antonietta Mazzei, Giuseppina Coppola, Luca Volterrani, Hans-Peter Zenner, Ilse Maria Zalaman, Ulrike Schumacher, Ingo B. Autenrieth, Nitin Wadhani, Hari Red, Shah Azmoon, Harpreet Singh, Bramah N. Singh, David W. Brown, Tal Geva, Claudio Guarneri, Francesco Borgia, Mario Vaccaro, Norbert Müller, Jürgen Kohlhase, Andreas Erhardt, Freddy Mboti, Karina Yazdanbakhsh, Millicent Sutton, Jan-Luuk Hillebrands, Roel de Weger, Jan Rozing, Linda Leatherbury, Cecilia Lo, Jutta Engel, Elan D. Louis, Fabrizio Guarneri, Mark Berneburg, Thomas Schwarz, Gabriele A. Krombach, Alfonso Baldi, Koichiro Niwa, Sefik Guran, Trevor J. Pugh, Marco A. Marra, John Wolstenholme, Hardally R. Hegde, Joachim Richter, Hiroyuki Yamagishi, Keiichi Fukuda, Maximilian Ledochowski, Dietmar Fuchs, Pushpa Agrawal, Md. Suhail Alam†, Saurabh K. Garg†, Ralf Wienecke, Giovambattista Capasso, Mauro Bernardi, Franco Trevisani, Kimitoshi Nakamura, Shiro Matsumoto, Hiroshi Mitsubuchi, and Fumio Endo
Published: 2009
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31. Tardive Stereotypy

Author: Satish R. Raj, S. R. Wayne Chen, Robert S. Sheldon, Arti N. Shah, Bharat K. Kantharia, Ulrich Salzer, Bodo Grimbacher, Alexander K. C. Leung, Deepak Kamat, Genovefa D. Kolovou, Katherine K. Anagnostopoulou, Dennis V. Cokkinos, Takahiro Shinkai, Rosaline C. M. Quinlivan, Robert Beynon, Thomas Kolter, Ute Schepers, Konrad Sandhoff, Christophe Nicot, Werner Kempf, Reinhard Dummer, Günter Burg, Urban W. Geisthoff, Deborah Bartholdi, Albert Schinzel, Stefan R. Bornstein, Nenad Blau, Elizabeth Goldmuntz, John-John B. Schnog, Victor E. A. Gerdes, Jacky Bonaventure, Donatus Nohr, Anthony M. Marinaki, Monica Arenas, Robert F. Groff IV, Jason H. Huang, Hugo Ten Cate, Ayalew Tefferi, Han-Mou Tsai, Mofid Ibraheim, Amaj Ikomi, Bob Olsson, Hans Wadenvik, Julian Ilcheff, Henri Bounameaux, Marc Righini, Christopher J. Boos, Gregory Y. H. Lip, Yuval Ramot, Neta Goldschmidt, Abraham Nyska, André B. P. Van Kuilenburg, Albert H. Van Gennip, Christian A. Koch, Nicholas J. Sarlis, Douglas Forrest, Peter Kopp, Seda Sancak, Markus Eszlinger, Ralf Paschke, Antonella Fioravanti, Maria Antonietta Mazzei, Giuseppina Coppola, Luca Volterrani, Hans-Peter Zenner, Ilse Maria Zalaman, Ulrike Schumacher, Ingo B. Autenrieth, Nitin Wadhani, Hari Red, Shah Azmoon, Harpreet Singh, Bramah N. Singh, David W. Brown, Tal Geva, Claudio Guarneri, Francesco Borgia, Mario Vaccaro, Norbert Müller, Jürgen Kohlhase, Andreas Erhardt, Freddy Mboti, Karina Yazdanbakhsh, Millicent Sutton, Jan-Luuk Hillebrands, Roel de Weger, Jan Rozing, Linda Leatherbury, Cecilia Lo, Jutta Engel, Elan D. Louis, Fabrizio Guarneri, Mark Berneburg, Thomas Schwarz, Gabriele A. Krombach, Alfonso Baldi, Koichiro Niwa, Sefik Guran, Trevor J. Pugh, Marco A. Marra, John Wolstenholme, Hardally R. Hegde, Joachim Richter, Hiroyuki Yamagishi, Keiichi Fukuda, Maximilian Ledochowski, Dietmar Fuchs, Pushpa Agrawal, Md. Suhail Alam†, Saurabh K. Garg†, Ralf Wienecke, Giovambattista Capasso, Mauro Bernardi, Franco Trevisani, Kimitoshi Nakamura, Shiro Matsumoto, Hiroshi Mitsubuchi, and Fumio Endo
Published: 2009
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32. Delayed Transfusion Reactions

Author: Dieter Metze, Tam Nguyen, Birgit Haack, Alexander K. C. Leung, Noriko Miyake, Naomichi Matsumoto, A. J. Larner, Oliver Bartsch, Barbara C. Van Munster, Christine A. F. Von Arnim, Jochen Klucken, Peter Heutink, Chaeyoung Lee, Alexander A. C. Leung, Justine H. S. Fong, Silke Hofmann, Leena Bruckner-Tuderman, Anca Sindrilaru, Cord Sunderkötter, Lev G. Goldfarb, Andreas Barthel, Erwin Schleicher, Andreas Fritsche, Derek LeRoith, Gunter Wolf, Wilgard Hunger-Dathe, John-John B. Schnog, Victor E. A. Gerdes, Michael Benatar, Michael Fromm, Jörg-Dieter Schulzke, Stefan Bröer, André B. P. Van Kuilenburg, Albert H. Van Gennip, André B. P. Kuilenburg, Albert H. Gennip, Michael Straub, Albrecht Hesse, Hugo Ten Cate, Nigel Laing, Frank Mastaglia, Manish Suneja, Christie P. Thomas, Ulrich Müller, Birgit Zirn, Daniela Steinberger, Mary Redmond Hutson, Margaret L. Kirby, Peter L. M. Jansen, Sönke Weihe, Jan Schulte Am Esch, Wolfram Trudo Knoefel, Andrew L. Wong, August H. M. Smelt, Johannes Schumacher, Per Hoffmann, Markus M. Nöthen, Andrea Schuppenies, Markus G. Donner, Dieter Häussinger, Norman Kock, Katja Lohmann, and Christine Klein
Published: 2009
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33. Disaccharide Intolerance I

Author: Dieter Metze, Tam Nguyen, Birgit Haack, Alexander K. C. Leung, Noriko Miyake, Naomichi Matsumoto, A. J. Larner, Oliver Bartsch, Barbara C. Van Munster, Christine A. F. Von Arnim, Jochen Klucken, Peter Heutink, Chaeyoung Lee, Alexander A. C. Leung, Justine H. S. Fong, Silke Hofmann, Leena Bruckner-Tuderman, Anca Sindrilaru, Cord Sunderkötter, Lev G. Goldfarb, Andreas Barthel, Erwin Schleicher, Andreas Fritsche, Derek LeRoith, Gunter Wolf, Wilgard Hunger-Dathe, John-John B. Schnog, Victor E. A. Gerdes, Michael Benatar, Michael Fromm, Jörg-Dieter Schulzke, Stefan Bröer, André B. P. Van Kuilenburg, Albert H. Van Gennip, André B. P. Kuilenburg, Albert H. Gennip, Michael Straub, Albrecht Hesse, Hugo Ten Cate, Nigel Laing, Frank Mastaglia, Manish Suneja, Christie P. Thomas, Ulrich Müller, Birgit Zirn, Daniela Steinberger, Mary Redmond Hutson, Margaret L. Kirby, Peter L. M. Jansen, Sönke Weihe, Jan Schulte Am Esch, Wolfram Trudo Knoefel, Andrew L. Wong, August H. M. Smelt, Johannes Schumacher, Per Hoffmann, Markus M. Nöthen, Andrea Schuppenies, Markus G. Donner, Dieter Häussinger, Norman Kock, Katja Lohmann, and Christine Klein
Published: 2009
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34. Tricuspid Valve Stenosis

Author: Satish R. Raj, S. R. Wayne Chen, Robert S. Sheldon, Arti N. Shah, Bharat K. Kantharia, Ulrich Salzer, Bodo Grimbacher, Alexander K. C. Leung, Deepak Kamat, Genovefa D. Kolovou, Katherine K. Anagnostopoulou, Dennis V. Cokkinos, Takahiro Shinkai, Rosaline C. M. Quinlivan, Robert Beynon, Thomas Kolter, Ute Schepers, Konrad Sandhoff, Christophe Nicot, Werner Kempf, Reinhard Dummer, Günter Burg, Urban W. Geisthoff, Deborah Bartholdi, Albert Schinzel, Stefan R. Bornstein, Nenad Blau, Elizabeth Goldmuntz, John-John B. Schnog, Victor E. A. Gerdes, Jacky Bonaventure, Donatus Nohr, Anthony M. Marinaki, Monica Arenas, Robert F. Groff IV, Jason H. Huang, Hugo Ten Cate, Ayalew Tefferi, Han-Mou Tsai, Mofid Ibraheim, Amaj Ikomi, Bob Olsson, Hans Wadenvik, Julian Ilcheff, Henri Bounameaux, Marc Righini, Christopher J. Boos, Gregory Y. H. Lip, Yuval Ramot, Neta Goldschmidt, Abraham Nyska, André B. P. Van Kuilenburg, Albert H. Van Gennip, Christian A. Koch, Nicholas J. Sarlis, Douglas Forrest, Peter Kopp, Seda Sancak, Markus Eszlinger, Ralf Paschke, Antonella Fioravanti, Maria Antonietta Mazzei, Giuseppina Coppola, Luca Volterrani, Hans-Peter Zenner, Ilse Maria Zalaman, Ulrike Schumacher, Ingo B. Autenrieth, Nitin Wadhani, Hari Red, Shah Azmoon, Harpreet Singh, Bramah N. Singh, David W. Brown, Tal Geva, Claudio Guarneri, Francesco Borgia, Mario Vaccaro, Norbert Müller, Jürgen Kohlhase, Andreas Erhardt, Freddy Mboti, Karina Yazdanbakhsh, Millicent Sutton, Jan-Luuk Hillebrands, Roel de Weger, Jan Rozing, Linda Leatherbury, Cecilia Lo, Jutta Engel, Elan D. Louis, Fabrizio Guarneri, Mark Berneburg, Thomas Schwarz, Gabriele A. Krombach, Alfonso Baldi, Koichiro Niwa, Sefik Guran, Trevor J. Pugh, Marco A. Marra, John Wolstenholme, Hardally R. Hegde, Joachim Richter, Hiroyuki Yamagishi, Keiichi Fukuda, Maximilian Ledochowski, Dietmar Fuchs, Pushpa Agrawal, Md. Suhail Alam†, Saurabh K. Garg†, Ralf Wienecke, Giovambattista Capasso, Mauro Bernardi, Franco Trevisani, Kimitoshi Nakamura, Shiro Matsumoto, Hiroshi Mitsubuchi, and Fumio Endo
Published: 2009
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35. Toxic Hepatitis, Acute

Author: Satish R. Raj, S. R. Wayne Chen, Robert S. Sheldon, Arti N. Shah, Bharat K. Kantharia, Ulrich Salzer, Bodo Grimbacher, Alexander K. C. Leung, Deepak Kamat, Genovefa D. Kolovou, Katherine K. Anagnostopoulou, Dennis V. Cokkinos, Takahiro Shinkai, Rosaline C. M. Quinlivan, Robert Beynon, Thomas Kolter, Ute Schepers, Konrad Sandhoff, Christophe Nicot, Werner Kempf, Reinhard Dummer, Günter Burg, Urban W. Geisthoff, Deborah Bartholdi, Albert Schinzel, Stefan R. Bornstein, Nenad Blau, Elizabeth Goldmuntz, John-John B. Schnog, Victor E. A. Gerdes, Jacky Bonaventure, Donatus Nohr, Anthony M. Marinaki, Monica Arenas, Robert F. Groff IV, Jason H. Huang, Hugo Ten Cate, Ayalew Tefferi, Han-Mou Tsai, Mofid Ibraheim, Amaj Ikomi, Bob Olsson, Hans Wadenvik, Julian Ilcheff, Henri Bounameaux, Marc Righini, Christopher J. Boos, Gregory Y. H. Lip, Yuval Ramot, Neta Goldschmidt, Abraham Nyska, André B. P. Van Kuilenburg, Albert H. Van Gennip, Christian A. Koch, Nicholas J. Sarlis, Douglas Forrest, Peter Kopp, Seda Sancak, Markus Eszlinger, Ralf Paschke, Antonella Fioravanti, Maria Antonietta Mazzei, Giuseppina Coppola, Luca Volterrani, Hans-Peter Zenner, Ilse Maria Zalaman, Ulrike Schumacher, Ingo B. Autenrieth, Nitin Wadhani, Hari Red, Shah Azmoon, Harpreet Singh, Bramah N. Singh, David W. Brown, Tal Geva, Claudio Guarneri, Francesco Borgia, Mario Vaccaro, Norbert Müller, Jürgen Kohlhase, Andreas Erhardt, Freddy Mboti, Karina Yazdanbakhsh, Millicent Sutton, Jan-Luuk Hillebrands, Roel de Weger, Jan Rozing, Linda Leatherbury, Cecilia Lo, Jutta Engel, Elan D. Louis, Fabrizio Guarneri, Mark Berneburg, Thomas Schwarz, Gabriele A. Krombach, Alfonso Baldi, Koichiro Niwa, Sefik Guran, Trevor J. Pugh, Marco A. Marra, John Wolstenholme, Hardally R. Hegde, Joachim Richter, Hiroyuki Yamagishi, Keiichi Fukuda, Maximilian Ledochowski, Dietmar Fuchs, Pushpa Agrawal, Md. Suhail Alam†, Saurabh K. Garg†, Ralf Wienecke, Giovambattista Capasso, Mauro Bernardi, Franco Trevisani, Kimitoshi Nakamura, Shiro Matsumoto, Hiroshi Mitsubuchi, and Fumio Endo
Published: 2009
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36. Thrombin Activatable Fibrinolytic Inhibitor and Venous Thrombosis

Author: Satish R. Raj, S. R. Wayne Chen, Robert S. Sheldon, Arti N. Shah, Bharat K. Kantharia, Ulrich Salzer, Bodo Grimbacher, Alexander K. C. Leung, Deepak Kamat, Genovefa D. Kolovou, Katherine K. Anagnostopoulou, Dennis V. Cokkinos, Takahiro Shinkai, Rosaline C. M. Quinlivan, Robert Beynon, Thomas Kolter, Ute Schepers, Konrad Sandhoff, Christophe Nicot, Werner Kempf, Reinhard Dummer, Günter Burg, Urban W. Geisthoff, Deborah Bartholdi, Albert Schinzel, Stefan R. Bornstein, Nenad Blau, Elizabeth Goldmuntz, John-John B. Schnog, Victor E. A. Gerdes, Jacky Bonaventure, Donatus Nohr, Anthony M. Marinaki, Monica Arenas, Robert F. Groff IV, Jason H. Huang, Hugo Ten Cate, Ayalew Tefferi, Han-Mou Tsai, Mofid Ibraheim, Amaj Ikomi, Bob Olsson, Hans Wadenvik, Julian Ilcheff, Henri Bounameaux, Marc Righini, Christopher J. Boos, Gregory Y. H. Lip, Yuval Ramot, Neta Goldschmidt, Abraham Nyska, André B. P. Van Kuilenburg, Albert H. Van Gennip, Christian A. Koch, Nicholas J. Sarlis, Douglas Forrest, Peter Kopp, Seda Sancak, Markus Eszlinger, Ralf Paschke, Antonella Fioravanti, Maria Antonietta Mazzei, Giuseppina Coppola, Luca Volterrani, Hans-Peter Zenner, Ilse Maria Zalaman, Ulrike Schumacher, Ingo B. Autenrieth, Nitin Wadhani, Hari Red, Shah Azmoon, Harpreet Singh, Bramah N. Singh, David W. Brown, Tal Geva, Claudio Guarneri, Francesco Borgia, Mario Vaccaro, Norbert Müller, Jürgen Kohlhase, Andreas Erhardt, Freddy Mboti, Karina Yazdanbakhsh, Millicent Sutton, Jan-Luuk Hillebrands, Roel de Weger, Jan Rozing, Linda Leatherbury, Cecilia Lo, Jutta Engel, Elan D. Louis, Fabrizio Guarneri, Mark Berneburg, Thomas Schwarz, Gabriele A. Krombach, Alfonso Baldi, Koichiro Niwa, Sefik Guran, Trevor J. Pugh, Marco A. Marra, John Wolstenholme, Hardally R. Hegde, Joachim Richter, Hiroyuki Yamagishi, Keiichi Fukuda, Maximilian Ledochowski, Dietmar Fuchs, Pushpa Agrawal, Md. Suhail Alam†, Saurabh K. Garg†, Ralf Wienecke, Giovambattista Capasso, Mauro Bernardi, Franco Trevisani, Kimitoshi Nakamura, Shiro Matsumoto, Hiroshi Mitsubuchi, and Fumio Endo
Published: 2009
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37. Tetrasomy 12p Mosaicism

Author: Satish R. Raj, S. R. Wayne Chen, Robert S. Sheldon, Arti N. Shah, Bharat K. Kantharia, Ulrich Salzer, Bodo Grimbacher, Alexander K. C. Leung, Deepak Kamat, Genovefa D. Kolovou, Katherine K. Anagnostopoulou, Dennis V. Cokkinos, Takahiro Shinkai, Rosaline C. M. Quinlivan, Robert Beynon, Thomas Kolter, Ute Schepers, Konrad Sandhoff, Christophe Nicot, Werner Kempf, Reinhard Dummer, Günter Burg, Urban W. Geisthoff, Deborah Bartholdi, Albert Schinzel, Stefan R. Bornstein, Nenad Blau, Elizabeth Goldmuntz, John-John B. Schnog, Victor E. A. Gerdes, Jacky Bonaventure, Donatus Nohr, Anthony M. Marinaki, Monica Arenas, Robert F. Groff IV, Jason H. Huang, Hugo Ten Cate, Ayalew Tefferi, Han-Mou Tsai, Mofid Ibraheim, Amaj Ikomi, Bob Olsson, Hans Wadenvik, Julian Ilcheff, Henri Bounameaux, Marc Righini, Christopher J. Boos, Gregory Y. H. Lip, Yuval Ramot, Neta Goldschmidt, Abraham Nyska, André B. P. Van Kuilenburg, Albert H. Van Gennip, Christian A. Koch, Nicholas J. Sarlis, Douglas Forrest, Peter Kopp, Seda Sancak, Markus Eszlinger, Ralf Paschke, Antonella Fioravanti, Maria Antonietta Mazzei, Giuseppina Coppola, Luca Volterrani, Hans-Peter Zenner, Ilse Maria Zalaman, Ulrike Schumacher, Ingo B. Autenrieth, Nitin Wadhani, Hari Red, Shah Azmoon, Harpreet Singh, Bramah N. Singh, David W. Brown, Tal Geva, Claudio Guarneri, Francesco Borgia, Mario Vaccaro, Norbert Müller, Jürgen Kohlhase, Andreas Erhardt, Freddy Mboti, Karina Yazdanbakhsh, Millicent Sutton, Jan-Luuk Hillebrands, Roel de Weger, Jan Rozing, Linda Leatherbury, Cecilia Lo, Jutta Engel, Elan D. Louis, Fabrizio Guarneri, Mark Berneburg, Thomas Schwarz, Gabriele A. Krombach, Alfonso Baldi, Koichiro Niwa, Sefik Guran, Trevor J. Pugh, Marco A. Marra, John Wolstenholme, Hardally R. Hegde, Joachim Richter, Hiroyuki Yamagishi, Keiichi Fukuda, Maximilian Ledochowski, Dietmar Fuchs, Pushpa Agrawal, Md. Suhail Alam†, Saurabh K. Garg†, Ralf Wienecke, Giovambattista Capasso, Mauro Bernardi, Franco Trevisani, Kimitoshi Nakamura, Shiro Matsumoto, Hiroshi Mitsubuchi, and Fumio Endo
Published: 2009
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38. Tracheopathia Chondroosteoplastica

Author: Satish R. Raj, S. R. Wayne Chen, Robert S. Sheldon, Arti N. Shah, Bharat K. Kantharia, Ulrich Salzer, Bodo Grimbacher, Alexander K. C. Leung, Deepak Kamat, Genovefa D. Kolovou, Katherine K. Anagnostopoulou, Dennis V. Cokkinos, Takahiro Shinkai, Rosaline C. M. Quinlivan, Robert Beynon, Thomas Kolter, Ute Schepers, Konrad Sandhoff, Christophe Nicot, Werner Kempf, Reinhard Dummer, Günter Burg, Urban W. Geisthoff, Deborah Bartholdi, Albert Schinzel, Stefan R. Bornstein, Nenad Blau, Elizabeth Goldmuntz, John-John B. Schnog, Victor E. A. Gerdes, Jacky Bonaventure, Donatus Nohr, Anthony M. Marinaki, Monica Arenas, Robert F. Groff IV, Jason H. Huang, Hugo Ten Cate, Ayalew Tefferi, Han-Mou Tsai, Mofid Ibraheim, Amaj Ikomi, Bob Olsson, Hans Wadenvik, Julian Ilcheff, Henri Bounameaux, Marc Righini, Christopher J. Boos, Gregory Y. H. Lip, Yuval Ramot, Neta Goldschmidt, Abraham Nyska, André B. P. Van Kuilenburg, Albert H. Van Gennip, Christian A. Koch, Nicholas J. Sarlis, Douglas Forrest, Peter Kopp, Seda Sancak, Markus Eszlinger, Ralf Paschke, Antonella Fioravanti, Maria Antonietta Mazzei, Giuseppina Coppola, Luca Volterrani, Hans-Peter Zenner, Ilse Maria Zalaman, Ulrike Schumacher, Ingo B. Autenrieth, Nitin Wadhani, Hari Red, Shah Azmoon, Harpreet Singh, Bramah N. Singh, David W. Brown, Tal Geva, Claudio Guarneri, Francesco Borgia, Mario Vaccaro, Norbert Müller, Jürgen Kohlhase, Andreas Erhardt, Freddy Mboti, Karina Yazdanbakhsh, Millicent Sutton, Jan-Luuk Hillebrands, Roel de Weger, Jan Rozing, Linda Leatherbury, Cecilia Lo, Jutta Engel, Elan D. Louis, Fabrizio Guarneri, Mark Berneburg, Thomas Schwarz, Gabriele A. Krombach, Alfonso Baldi, Koichiro Niwa, Sefik Guran, Trevor J. Pugh, Marco A. Marra, John Wolstenholme, Hardally R. Hegde, Joachim Richter, Hiroyuki Yamagishi, Keiichi Fukuda, Maximilian Ledochowski, Dietmar Fuchs, Pushpa Agrawal, Md. Suhail Alam†, Saurabh K. Garg†, Ralf Wienecke, Giovambattista Capasso, Mauro Bernardi, Franco Trevisani, Kimitoshi Nakamura, Shiro Matsumoto, Hiroshi Mitsubuchi, and Fumio Endo
Published: 2009
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39. Delayed Puberty

Author: Dieter Metze, Tam Nguyen, Birgit Haack, Alexander K. C. Leung, Noriko Miyake, Naomichi Matsumoto, A. J. Larner, Oliver Bartsch, Barbara C. Van Munster, Christine A. F. Von Arnim, Jochen Klucken, Peter Heutink, Chaeyoung Lee, Alexander A. C. Leung, Justine H. S. Fong, Silke Hofmann, Leena Bruckner-Tuderman, Anca Sindrilaru, Cord Sunderkötter, Lev G. Goldfarb, Andreas Barthel, Erwin Schleicher, Andreas Fritsche, Derek LeRoith, Gunter Wolf, Wilgard Hunger-Dathe, John-John B. Schnog, Victor E. A. Gerdes, Michael Benatar, Michael Fromm, Jörg-Dieter Schulzke, Stefan Bröer, André B. P. Van Kuilenburg, Albert H. Van Gennip, André B. P. Kuilenburg, Albert H. Gennip, Michael Straub, Albrecht Hesse, Hugo Ten Cate, Nigel Laing, Frank Mastaglia, Manish Suneja, Christie P. Thomas, Ulrich Müller, Birgit Zirn, Daniela Steinberger, Mary Redmond Hutson, Margaret L. Kirby, Peter L. M. Jansen, Sönke Weihe, Jan Schulte Am Esch, Wolfram Trudo Knoefel, Andrew L. Wong, August H. M. Smelt, Johannes Schumacher, Per Hoffmann, Markus M. Nöthen, Andrea Schuppenies, Markus G. Donner, Dieter Häussinger, Norman Kock, Katja Lohmann, and Christine Klein
Published: 2009
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40. Darier-White Disease

Author: Dieter Metze, Tam Nguyen, Birgit Haack, Alexander K. C. Leung, Noriko Miyake, Naomichi Matsumoto, A. J. Larner, Oliver Bartsch, Barbara C. Van Munster, Christine A. F. Von Arnim, Jochen Klucken, Peter Heutink, Chaeyoung Lee, Alexander A. C. Leung, Justine H. S. Fong, Silke Hofmann, Leena Bruckner-Tuderman, Anca Sindrilaru, Cord Sunderkötter, Lev G. Goldfarb, Andreas Barthel, Erwin Schleicher, Andreas Fritsche, Derek LeRoith, Gunter Wolf, Wilgard Hunger-Dathe, John-John B. Schnog, Victor E. A. Gerdes, Michael Benatar, Michael Fromm, Jörg-Dieter Schulzke, Stefan Bröer, André B. P. Van Kuilenburg, Albert H. Van Gennip, André B. P. Kuilenburg, Albert H. Gennip, Michael Straub, Albrecht Hesse, Hugo Ten Cate, Nigel Laing, Frank Mastaglia, Manish Suneja, Christie P. Thomas, Ulrich Müller, Birgit Zirn, Daniela Steinberger, Mary Redmond Hutson, Margaret L. Kirby, Peter L. M. Jansen, Sönke Weihe, Jan Schulte Am Esch, Wolfram Trudo Knoefel, Andrew L. Wong, August H. M. Smelt, Johannes Schumacher, Per Hoffmann, Markus M. Nöthen, Andrea Schuppenies, Markus G. Donner, Dieter Häussinger, Norman Kock, Katja Lohmann, and Christine Klein
Published: 2009
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41. Deficiency of Respiratory Chain Complex IV

Author: Dieter Metze, Tam Nguyen, Birgit Haack, Alexander K. C. Leung, Noriko Miyake, Naomichi Matsumoto, A. J. Larner, Oliver Bartsch, Barbara C. Van Munster, Christine A. F. Von Arnim, Jochen Klucken, Peter Heutink, Chaeyoung Lee, Alexander A. C. Leung, Justine H. S. Fong, Silke Hofmann, Leena Bruckner-Tuderman, Anca Sindrilaru, Cord Sunderkötter, Lev G. Goldfarb, Andreas Barthel, Erwin Schleicher, Andreas Fritsche, Derek LeRoith, Gunter Wolf, Wilgard Hunger-Dathe, John-John B. Schnog, Victor E. A. Gerdes, Michael Benatar, Michael Fromm, Jörg-Dieter Schulzke, Stefan Bröer, André B. P. Van Kuilenburg, Albert H. Van Gennip, André B. P. Kuilenburg, Albert H. Gennip, Michael Straub, Albrecht Hesse, Hugo Ten Cate, Nigel Laing, Frank Mastaglia, Manish Suneja, Christie P. Thomas, Ulrich Müller, Birgit Zirn, Daniela Steinberger, Mary Redmond Hutson, Margaret L. Kirby, Peter L. M. Jansen, Sönke Weihe, Jan Schulte Am Esch, Wolfram Trudo Knoefel, Andrew L. Wong, August H. M. Smelt, Johannes Schumacher, Per Hoffmann, Markus M. Nöthen, Andrea Schuppenies, Markus G. Donner, Dieter Häussinger, Norman Kock, Katja Lohmann, and Christine Klein
Published: 2009
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42. Dihydropteridine Reductase Deficiency

Author: Dieter Metze, Tam Nguyen, Birgit Haack, Alexander K. C. Leung, Noriko Miyake, Naomichi Matsumoto, A. J. Larner, Oliver Bartsch, Barbara C. Van Munster, Christine A. F. Von Arnim, Jochen Klucken, Peter Heutink, Chaeyoung Lee, Alexander A. C. Leung, Justine H. S. Fong, Silke Hofmann, Leena Bruckner-Tuderman, Anca Sindrilaru, Cord Sunderkötter, Lev G. Goldfarb, Andreas Barthel, Erwin Schleicher, Andreas Fritsche, Derek LeRoith, Gunter Wolf, Wilgard Hunger-Dathe, John-John B. Schnog, Victor E. A. Gerdes, Michael Benatar, Michael Fromm, Jörg-Dieter Schulzke, Stefan Bröer, André B. P. Van Kuilenburg, Albert H. Van Gennip, André B. P. Kuilenburg, Albert H. Gennip, Michael Straub, Albrecht Hesse, Hugo Ten Cate, Nigel Laing, Frank Mastaglia, Manish Suneja, Christie P. Thomas, Ulrich Müller, Birgit Zirn, Daniela Steinberger, Mary Redmond Hutson, Margaret L. Kirby, Peter L. M. Jansen, Sönke Weihe, Jan Schulte Am Esch, Wolfram Trudo Knoefel, Andrew L. Wong, August H. M. Smelt, Johannes Schumacher, Per Hoffmann, Markus M. Nöthen, Andrea Schuppenies, Markus G. Donner, Dieter Häussinger, Norman Kock, Katja Lohmann, and Christine Klein
Published: 2009
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43. Denine Phosphoribosyl Transferase (APRT) Deficiency

Author: Dieter Metze, Tam Nguyen, Birgit Haack, Alexander K. C. Leung, Noriko Miyake, Naomichi Matsumoto, A. J. Larner, Oliver Bartsch, Barbara C. Van Munster, Christine A. F. Von Arnim, Jochen Klucken, Peter Heutink, Chaeyoung Lee, Alexander A. C. Leung, Justine H. S. Fong, Silke Hofmann, Leena Bruckner-Tuderman, Anca Sindrilaru, Cord Sunderkötter, Lev G. Goldfarb, Andreas Barthel, Erwin Schleicher, Andreas Fritsche, Derek LeRoith, Gunter Wolf, Wilgard Hunger-Dathe, John-John B. Schnog, Victor E. A. Gerdes, Michael Benatar, Michael Fromm, Jörg-Dieter Schulzke, Stefan Bröer, André B. P. Van Kuilenburg, Albert H. Van Gennip, André B. P. Kuilenburg, Albert H. Gennip, Michael Straub, Albrecht Hesse, Hugo Ten Cate, Nigel Laing, Frank Mastaglia, Manish Suneja, Christie P. Thomas, Ulrich Müller, Birgit Zirn, Daniela Steinberger, Mary Redmond Hutson, Margaret L. Kirby, Peter L. M. Jansen, Sönke Weihe, Jan Schulte Am Esch, Wolfram Trudo Knoefel, Andrew L. Wong, August H. M. Smelt, Johannes Schumacher, Per Hoffmann, Markus M. Nöthen, Andrea Schuppenies, Markus G. Donner, Dieter Häussinger, Norman Kock, Katja Lohmann, and Christine Klein
Published: 2009
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44. Dihydropyrimidine Dehydrogenase Deficiency

Author: Dieter Metze, Tam Nguyen, Birgit Haack, Alexander K. C. Leung, Noriko Miyake, Naomichi Matsumoto, A. J. Larner, Oliver Bartsch, Barbara C. Van Munster, Christine A. F. Von Arnim, Jochen Klucken, Peter Heutink, Chaeyoung Lee, Alexander A. C. Leung, Justine H. S. Fong, Silke Hofmann, Leena Bruckner-Tuderman, Anca Sindrilaru, Cord Sunderkötter, Lev G. Goldfarb, Andreas Barthel, Erwin Schleicher, Andreas Fritsche, Derek LeRoith, Gunter Wolf, Wilgard Hunger-Dathe, John-John B. Schnog, Victor E. A. Gerdes, Michael Benatar, Michael Fromm, Jörg-Dieter Schulzke, Stefan Bröer, André B. P. Van Kuilenburg, Albert H. Van Gennip, André B. P. Kuilenburg, Albert H. Gennip, Michael Straub, Albrecht Hesse, Hugo Ten Cate, Nigel Laing, Frank Mastaglia, Manish Suneja, Christie P. Thomas, Ulrich Müller, Birgit Zirn, Daniela Steinberger, Mary Redmond Hutson, Margaret L. Kirby, Peter L. M. Jansen, Sönke Weihe, Jan Schulte Am Esch, Wolfram Trudo Knoefel, Andrew L. Wong, August H. M. Smelt, Johannes Schumacher, Per Hoffmann, Markus M. Nöthen, Andrea Schuppenies, Markus G. Donner, Dieter Häussinger, Norman Kock, Katja Lohmann, and Christine Klein
Published: 2009
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45. T-Cell LGL Leukemia

Author: Satish R. Raj, S. R. Wayne Chen, Robert S. Sheldon, Arti N. Shah, Bharat K. Kantharia, Ulrich Salzer, Bodo Grimbacher, Alexander K. C. Leung, Deepak Kamat, Genovefa D. Kolovou, Katherine K. Anagnostopoulou, Dennis V. Cokkinos, Takahiro Shinkai, Rosaline C. M. Quinlivan, Robert Beynon, Thomas Kolter, Ute Schepers, Konrad Sandhoff, Christophe Nicot, Werner Kempf, Reinhard Dummer, Günter Burg, Urban W. Geisthoff, Deborah Bartholdi, Albert Schinzel, Stefan R. Bornstein, Nenad Blau, Elizabeth Goldmuntz, John-John B. Schnog, Victor E. A. Gerdes, Jacky Bonaventure, Donatus Nohr, Anthony M. Marinaki, Monica Arenas, Robert F. Groff IV, Jason H. Huang, Hugo Ten Cate, Ayalew Tefferi, Han-Mou Tsai, Mofid Ibraheim, Amaj Ikomi, Bob Olsson, Hans Wadenvik, Julian Ilcheff, Henri Bounameaux, Marc Righini, Christopher J. Boos, Gregory Y. H. Lip, Yuval Ramot, Neta Goldschmidt, Abraham Nyska, André B. P. Van Kuilenburg, Albert H. Van Gennip, Christian A. Koch, Nicholas J. Sarlis, Douglas Forrest, Peter Kopp, Seda Sancak, Markus Eszlinger, Ralf Paschke, Antonella Fioravanti, Maria Antonietta Mazzei, Giuseppina Coppola, Luca Volterrani, Hans-Peter Zenner, Ilse Maria Zalaman, Ulrike Schumacher, Ingo B. Autenrieth, Nitin Wadhani, Hari Red, Shah Azmoon, Harpreet Singh, Bramah N. Singh, David W. Brown, Tal Geva, Claudio Guarneri, Francesco Borgia, Mario Vaccaro, Norbert Müller, Jürgen Kohlhase, Andreas Erhardt, Freddy Mboti, Karina Yazdanbakhsh, Millicent Sutton, Jan-Luuk Hillebrands, Roel de Weger, Jan Rozing, Linda Leatherbury, Cecilia Lo, Jutta Engel, Elan D. Louis, Fabrizio Guarneri, Mark Berneburg, Thomas Schwarz, Gabriele A. Krombach, Alfonso Baldi, Koichiro Niwa, Sefik Guran, Trevor J. Pugh, Marco A. Marra, John Wolstenholme, Hardally R. Hegde, Joachim Richter, Hiroyuki Yamagishi, Keiichi Fukuda, Maximilian Ledochowski, Dietmar Fuchs, Pushpa Agrawal, Md. Suhail Alam†, Saurabh K. Garg†, Ralf Wienecke, Giovambattista Capasso, Mauro Bernardi, Franco Trevisani, Kimitoshi Nakamura, Shiro Matsumoto, Hiroshi Mitsubuchi, and Fumio Endo
Published: 2009
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46. Distal Renal Tubular Acidosis

Author: Dieter Metze, Tam Nguyen, Birgit Haack, Alexander K. C. Leung, Noriko Miyake, Naomichi Matsumoto, A. J. Larner, Oliver Bartsch, Barbara C. Van Munster, Christine A. F. Von Arnim, Jochen Klucken, Peter Heutink, Chaeyoung Lee, Alexander A. C. Leung, Justine H. S. Fong, Silke Hofmann, Leena Bruckner-Tuderman, Anca Sindrilaru, Cord Sunderkötter, Lev G. Goldfarb, Andreas Barthel, Erwin Schleicher, Andreas Fritsche, Derek LeRoith, Gunter Wolf, Wilgard Hunger-Dathe, John-John B. Schnog, Victor E. A. Gerdes, Michael Benatar, Michael Fromm, Jörg-Dieter Schulzke, Stefan Bröer, André B. P. Van Kuilenburg, Albert H. Van Gennip, André B. P. Kuilenburg, Albert H. Gennip, Michael Straub, Albrecht Hesse, Hugo Ten Cate, Nigel Laing, Frank Mastaglia, Manish Suneja, Christie P. Thomas, Ulrich Müller, Birgit Zirn, Daniela Steinberger, Mary Redmond Hutson, Margaret L. Kirby, Peter L. M. Jansen, Sönke Weihe, Jan Schulte Am Esch, Wolfram Trudo Knoefel, Andrew L. Wong, August H. M. Smelt, Johannes Schumacher, Per Hoffmann, Markus M. Nöthen, Andrea Schuppenies, Markus G. Donner, Dieter Häussinger, Norman Kock, Katja Lohmann, and Christine Klein
Published: 2009
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47. Thin Basement Membrane Nephropathy

Author: Satish R. Raj, S. R. Wayne Chen, Robert S. Sheldon, Arti N. Shah, Bharat K. Kantharia, Ulrich Salzer, Bodo Grimbacher, Alexander K. C. Leung, Deepak Kamat, Genovefa D. Kolovou, Katherine K. Anagnostopoulou, Dennis V. Cokkinos, Takahiro Shinkai, Rosaline C. M. Quinlivan, Robert Beynon, Thomas Kolter, Ute Schepers, Konrad Sandhoff, Christophe Nicot, Werner Kempf, Reinhard Dummer, Günter Burg, Urban W. Geisthoff, Deborah Bartholdi, Albert Schinzel, Stefan R. Bornstein, Nenad Blau, Elizabeth Goldmuntz, John-John B. Schnog, Victor E. A. Gerdes, Jacky Bonaventure, Donatus Nohr, Anthony M. Marinaki, Monica Arenas, Robert F. Groff IV, Jason H. Huang, Hugo Ten Cate, Ayalew Tefferi, Han-Mou Tsai, Mofid Ibraheim, Amaj Ikomi, Bob Olsson, Hans Wadenvik, Julian Ilcheff, Henri Bounameaux, Marc Righini, Christopher J. Boos, Gregory Y. H. Lip, Yuval Ramot, Neta Goldschmidt, Abraham Nyska, André B. P. Van Kuilenburg, Albert H. Van Gennip, Christian A. Koch, Nicholas J. Sarlis, Douglas Forrest, Peter Kopp, Seda Sancak, Markus Eszlinger, Ralf Paschke, Antonella Fioravanti, Maria Antonietta Mazzei, Giuseppina Coppola, Luca Volterrani, Hans-Peter Zenner, Ilse Maria Zalaman, Ulrike Schumacher, Ingo B. Autenrieth, Nitin Wadhani, Hari Red, Shah Azmoon, Harpreet Singh, Bramah N. Singh, David W. Brown, Tal Geva, Claudio Guarneri, Francesco Borgia, Mario Vaccaro, Norbert Müller, Jürgen Kohlhase, Andreas Erhardt, Freddy Mboti, Karina Yazdanbakhsh, Millicent Sutton, Jan-Luuk Hillebrands, Roel de Weger, Jan Rozing, Linda Leatherbury, Cecilia Lo, Jutta Engel, Elan D. Louis, Fabrizio Guarneri, Mark Berneburg, Thomas Schwarz, Gabriele A. Krombach, Alfonso Baldi, Koichiro Niwa, Sefik Guran, Trevor J. Pugh, Marco A. Marra, John Wolstenholme, Hardally R. Hegde, Joachim Richter, Hiroyuki Yamagishi, Keiichi Fukuda, Maximilian Ledochowski, Dietmar Fuchs, Pushpa Agrawal, Md. Suhail Alam†, Saurabh K. Garg†, Ralf Wienecke, Giovambattista Capasso, Mauro Bernardi, Franco Trevisani, Kimitoshi Nakamura, Shiro Matsumoto, Hiroshi Mitsubuchi, and Fumio Endo
Published: 2009
Full Text: View/download PDF

48. Thrombocythemia, Essential

Author: Satish R. Raj, S. R. Wayne Chen, Robert S. Sheldon, Arti N. Shah, Bharat K. Kantharia, Ulrich Salzer, Bodo Grimbacher, Alexander K. C. Leung, Deepak Kamat, Genovefa D. Kolovou, Katherine K. Anagnostopoulou, Dennis V. Cokkinos, Takahiro Shinkai, Rosaline C. M. Quinlivan, Robert Beynon, Thomas Kolter, Ute Schepers, Konrad Sandhoff, Christophe Nicot, Werner Kempf, Reinhard Dummer, Günter Burg, Urban W. Geisthoff, Deborah Bartholdi, Albert Schinzel, Stefan R. Bornstein, Nenad Blau, Elizabeth Goldmuntz, John-John B. Schnog, Victor E. A. Gerdes, Jacky Bonaventure, Donatus Nohr, Anthony M. Marinaki, Monica Arenas, Robert F. Groff IV, Jason H. Huang, Hugo Ten Cate, Ayalew Tefferi, Han-Mou Tsai, Mofid Ibraheim, Amaj Ikomi, Bob Olsson, Hans Wadenvik, Julian Ilcheff, Henri Bounameaux, Marc Righini, Christopher J. Boos, Gregory Y. H. Lip, Yuval Ramot, Neta Goldschmidt, Abraham Nyska, André B. P. Van Kuilenburg, Albert H. Van Gennip, Christian A. Koch, Nicholas J. Sarlis, Douglas Forrest, Peter Kopp, Seda Sancak, Markus Eszlinger, Ralf Paschke, Antonella Fioravanti, Maria Antonietta Mazzei, Giuseppina Coppola, Luca Volterrani, Hans-Peter Zenner, Ilse Maria Zalaman, Ulrike Schumacher, Ingo B. Autenrieth, Nitin Wadhani, Hari Red, Shah Azmoon, Harpreet Singh, Bramah N. Singh, David W. Brown, Tal Geva, Claudio Guarneri, Francesco Borgia, Mario Vaccaro, Norbert Müller, Jürgen Kohlhase, Andreas Erhardt, Freddy Mboti, Karina Yazdanbakhsh, Millicent Sutton, Jan-Luuk Hillebrands, Roel de Weger, Jan Rozing, Linda Leatherbury, Cecilia Lo, Jutta Engel, Elan D. Louis, Fabrizio Guarneri, Mark Berneburg, Thomas Schwarz, Gabriele A. Krombach, Alfonso Baldi, Koichiro Niwa, Sefik Guran, Trevor J. Pugh, Marco A. Marra, John Wolstenholme, Hardally R. Hegde, Joachim Richter, Hiroyuki Yamagishi, Keiichi Fukuda, Maximilian Ledochowski, Dietmar Fuchs, Pushpa Agrawal, Md. Suhail Alam†, Saurabh K. Garg†, Ralf Wienecke, Giovambattista Capasso, Mauro Bernardi, Franco Trevisani, Kimitoshi Nakamura, Shiro Matsumoto, Hiroshi Mitsubuchi, and Fumio Endo
Published: 2009
Full Text: View/download PDF

49. Desmin Myopathy

Author: Dieter Metze, Tam Nguyen, Birgit Haack, Alexander K. C. Leung, Noriko Miyake, Naomichi Matsumoto, A. J. Larner, Oliver Bartsch, Barbara C. Van Munster, Christine A. F. Von Arnim, Jochen Klucken, Peter Heutink, Chaeyoung Lee, Alexander A. C. Leung, Justine H. S. Fong, Silke Hofmann, Leena Bruckner-Tuderman, Anca Sindrilaru, Cord Sunderkötter, Lev G. Goldfarb, Andreas Barthel, Erwin Schleicher, Andreas Fritsche, Derek LeRoith, Gunter Wolf, Wilgard Hunger-Dathe, John-John B. Schnog, Victor E. A. Gerdes, Michael Benatar, Michael Fromm, Jörg-Dieter Schulzke, Stefan Bröer, André B. P. Van Kuilenburg, Albert H. Van Gennip, André B. P. Kuilenburg, Albert H. Gennip, Michael Straub, Albrecht Hesse, Hugo Ten Cate, Nigel Laing, Frank Mastaglia, Manish Suneja, Christie P. Thomas, Ulrich Müller, Birgit Zirn, Daniela Steinberger, Mary Redmond Hutson, Margaret L. Kirby, Peter L. M. Jansen, Sönke Weihe, Jan Schulte Am Esch, Wolfram Trudo Knoefel, Andrew L. Wong, August H. M. Smelt, Johannes Schumacher, Per Hoffmann, Markus M. Nöthen, Andrea Schuppenies, Markus G. Donner, Dieter Häussinger, Norman Kock, Katja Lohmann, and Christine Klein
Published: 2009
Full Text: View/download PDF

50. D+ HUS

Author: Dieter Metze, Tam Nguyen, Birgit Haack, Alexander K. C. Leung, Noriko Miyake, Naomichi Matsumoto, A. J. Larner, Oliver Bartsch, Barbara C. Van Munster, Christine A. F. Von Arnim, Jochen Klucken, Peter Heutink, Chaeyoung Lee, Alexander A. C. Leung, Justine H. S. Fong, Silke Hofmann, Leena Bruckner-Tuderman, Anca Sindrilaru, Cord Sunderkötter, Lev G. Goldfarb, Andreas Barthel, Erwin Schleicher, Andreas Fritsche, Derek LeRoith, Gunter Wolf, Wilgard Hunger-Dathe, John-John B. Schnog, Victor E. A. Gerdes, Michael Benatar, Michael Fromm, Jörg-Dieter Schulzke, Stefan Bröer, André B. P. Van Kuilenburg, Albert H. Van Gennip, André B. P. Kuilenburg, Albert H. Gennip, Michael Straub, Albrecht Hesse, Hugo Ten Cate, Nigel Laing, Frank Mastaglia, Manish Suneja, Christie P. Thomas, Ulrich Müller, Birgit Zirn, Daniela Steinberger, Mary Redmond Hutson, Margaret L. Kirby, Peter L. M. Jansen, Sönke Weihe, Jan Schulte Am Esch, Wolfram Trudo Knoefel, Andrew L. Wong, August H. M. Smelt, Johannes Schumacher, Per Hoffmann, Markus M. Nöthen, Andrea Schuppenies, Markus G. Donner, Dieter Häussinger, Norman Kock, Katja Lohmann, and Christine Klein
Published: 2009
Full Text: View/download PDF

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