Research Topics
Genomes and Genes | P VrekenSummaryAffiliation: Academic Medical Center Country: The Netherlands Publications
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Detail Information
Publications
Rapid diagnosis of organic acidemias and fatty-acid oxidation defects by quantitative electrospray tandem-MS acyl-carnitine analysis in plasmaP Vreken
University of Amsterdam, Dept of Clinical Chemistry, The Netherlands
Adv Exp Med Biol 466:327-37. 1999....- Defective remodeling of cardiolipin and phosphatidylglycerol in Barth syndromeP Vreken
Department of Clinical Chemistry, Academic Medical Center, Amsterdam, 1100 DE, The Netherlands
Biochem Biophys Res Commun 279:378-82. 2000..These results imply that the G4.5 gene product, which is mutated in Barth syndrome patients, is specifically involved in the remodeling of PG and CL and for the first time identify an essential factor in this important cellular process... - Rapid stable isotope dilution analysis of very-long-chain fatty acids, pristanic acid and phytanic acid using gas chromatography-electron impact mass spectrometryP Vreken
Academic Medical Center, University of Amsterdam, Emma Children s Hospital and Dept of Clinical Chemistry, The Netherlands
J Chromatogr B Biomed Sci Appl 713:281-7. 1998..This method is suitable for routine screening for peroxisomal disorders... - cDNA cloning, genomic structure and chromosomal localization of the human BUP-1 gene encoding beta-ureidopropionaseP Vreken
Academic Medical Center, Departments of Clinical Chemistry and Division Emma Children s Hospital, Amsterdam, Netherlands
Biochim Biophys Acta 1447:251-7. 1999..The gene consist of 11 exons spanning approximately 20 kB of genomic DNA. Fluorescence in situ hydridization localized the human beta-ureidopropionase gene to 22q11.2... - Dihydropyrimidine dehydrogenase (DPD) deficiency: identification and expression of missense mutations C29R, R886H and R235WP Vreken
Academic Medical Center, University of Amsterdam, The Netherlands
Hum Genet 101:333-8. 1997..Only one of these patients showed convulsive disorders during childhood, whereas the other showed no clinical phenotype, further illustrating the lack of correlation between genotype and phenotype in DPD deficiency... - Identification of a four-base deletion (delTCAT296-299) in the dihydropyrimidine dehydrogenase gene with variable clinical expressionP Vreken
University of Amsterdam, Department of Pediatrics, The Netherlands
Hum Genet 100:263-5. 1997..Two of these showed convulsive disorders but one was clinically normal. This observation suggests that, at least in this family, there is no clear correlation between the dihydropyrimidine dehydrogenase genotype and phenotype... - Clinical implications of dihydropyrimidine dehydrogenase (DPD) deficiency in patients with severe 5-fluorouracil-associated toxicity: identification of new mutations in the DPD geneA B Van Kuilenburg
Academic Medical Center, University of Amsterdam, Emma Children s Hospital and Department of Clinical Chemistry, The Netherlands
Clin Cancer Res 6:4705-12. 2000..Our results demonstrated that at least 57% (8 of 14) of the patients with a reduced DPD activity have a molecular basis for their deficient phenotype... - Identification of novel point mutations in the dihydropyrimidine dehydrogenase geneP Vreken
University of Amsterdam, Department of Pediatrics, The Netherlands
J Inherit Metab Dis 20:335-8. 1997 - Mutations in the 3beta-hydroxysterol Delta24-reductase gene cause desmosterolosis, an autosomal recessive disorder of cholesterol biosynthesisH R Waterham
Department of Pediatrics, Emma Children s Hospital, Academic Medical Center, University of Amsterdam, 1100 DE Amsterdam, The Netherlands
Am J Hum Genet 69:685-94. 2001..Our data demonstrate that desmosterolosis is a cholesterol-biosynthesis disorder caused by mutations in DHCR24... - Peroxisomal fatty acid alpha- and beta-oxidation in humans: enzymology, peroxisomal metabolite transporters and peroxisomal diseasesR J Wanders
University of Amsterdam, Academic Medical Centre, Departments of Clinical Chemistry and Paediatrics, Emma Children s Hospital, Laboratory for Genetic Metabolic Diseases, P O Box 22700, 1100 DE Amsterdam, The Netherlands
Biochem Soc Trans 29:250-67. 2001.... - Identification of a cDNA encoding an isoform of human CTP synthetaseA B Van Kuilenburg
Academic Medical Center, University of Amsterdam, Emma Children s Hospital and Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, PO Box 22700, 1100 DE, Amsterdam, The Netherlands
Biochim Biophys Acta 1492:548-52. 2000..The gene encoding type II CTP synthetase has been localized on chromosome Xp22... - A point mutation in an invariant splice donor site leads to exon skipping in two unrelated Dutch patients with dihydropyrimidine dehydrogenase deficiencyP Vreken
University of Amsterdam, Department of Pediatrics, The Netherlands
J Inherit Metab Dis 19:645-54. 1996..Analysis of 50 controls revealed no individuals heterozygous for this mutation... - Plasma analysis of di- and trihydroxycholestanoic acid diastereoisomers in peroxisomal alpha-methylacyl-CoA racemase deficiencyS Ferdinandusse
Department of Clinical Chemistry, Emma Children's Hospital, Academic Medical Center, University of Amsterdam, 1105 AZ Amsterdam, The Netherlands
J Lipid Res 42:137-41. 2001..H. Overmars, S. Denis, H. R. Waterham, R. J. A. Wanders, and P. Vreken. Plasma analysis of di- and trihydroxycholestanoic acid diastereoisomers in peroxisomal alpha-methylacyl-CoA racemase deficiency. J. Lipid Res. 2001. 42: 137;-141... - Genotype and phenotype in patients with dihydropyrimidine dehydrogenase deficiencyA B Van Kuilenburg
Academic Medical Center, University of Amsterdam, Emma Children s Hospital and Department of Clinical Chemistry, The Netherlands
Hum Genet 104:1-9. 1999..A clear correlation between the genotype and phenotype has not been established. An altered beta-alanine, uracil and thymine homeostasis might underlie the various clinical abnormalities encountered in patients with DPD deficiency... - Disorders of mitochondrial fatty acyl-CoA beta-oxidationR J Wanders
Academic Medical Center, University of Amsterdam, The Netherlands
J Inherit Metab Dis 22:442-87. 1999..In addition, a simple flowchart is presented as a guide to the identification of mitochondrial FAO-disorders. Finally, treatment strategies are discussed briefly... - Mutations in the gene encoding peroxisomal alpha-methylacyl-CoA racemase cause adult-onset sensory motor neuropathyS Ferdinandusse
Department of Clinical Chemistry, Emma Children s Hospital, Academic Medical Center, University of Amsterdam, The Netherlands
Nat Genet 24:188-91. 2000..Our findings have implications for the diagnosis of adult-onset neuropathies of unknown aetiology... - X-linked cardioskeletal myopathy and neutropenia (Barth syndrome) (MIM 302060)P G Barth
Emma Children s Hospital, Department of Pediatrics, Amsterdam, The Netherlands
J Inherit Metab Dis 22:555-67. 1999..This points to the (lipid) structure of the inner mitochondrial membrane as a promising new area of research... - Stereochemistry of the peroxisomal branched-chain fatty acid alpha- and beta-oxidation systems in patients suffering from different peroxisomal disordersS Ferdinandusse
University of Amsterdam, Academic Medical Center, Department of Clinical Chemistry, Amsterdam, The Netherlands
J Lipid Res 43:438-44. 2002.... - Late onset white matter disease in peroxisome biogenesis disorderP G Barth
Department of Pediatrics, Emma Children s Hospital AMC, Amsterdam, The Netherlands
Neurology 57:1949-55. 2001..To report late onset cerebral white matter disease as a distinctive phenotype in peroxisome biogenesis disorder (PBD)... - Human alpha-N-acetylgalactosaminidase (alpha-NAGA) deficiency: no association with neuroaxonal dystrophy?H D Bakker
Emma Children's Hospital and Laboratory of Genetic Metabolic Diseases, Academic Medical Centre, University of Amsterdam, The Netherlands
Eur J Hum Genet 9:91-6. 2001.... - Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase geneH R Waterham
Departments of Clinical Chemistry and Pediatrics, Academic Medical Center, University of Amsterdam, The Netherlands
Am J Hum Genet 63:329-38. 1998..Our data demonstrate that Smith-Lemli-Opitz syndrome is caused by mutations in the gene coding for 7-dehydrocholesterol reductase... - Peroxisomal D-hydroxyacyl-CoA dehydrogenase deficiency: resolution of the enzyme defect and its molecular basis in bifunctional protein deficiencyE G van Grunsven
University of Amsterdam, Academic Medical Centre, Department of Clinical Chemistry, Laboratory of Genetic Metabolic Diseases, Amsterdam, The Netherlands
Proc Natl Acad Sci U S A 95:2128-33. 1998..The results show that the newly identified D-bifunctional protein plays an essential role in the peroxisomal beta-oxidation pathway that cannot be compensated for by the L-specific bifunctional protein... - Significantly reduced docosahexaenoic and docosapentaenoic acid concentrations in erythrocyte membranes from schizophrenic patients compared with a carefully matched control groupJ Assies
Department of Adolescent Psychiatry, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
Biol Psychiatry 49:510-22. 2001..The differences were not due to diet or hormonal status and could not be explained by the medication or cannabis use. No consistent pattern emerged from the different fatty acid abnormalities and the clinical symptom scores... - Cytidine triphosphate synthase activity and mRNA expression in normal human blood cellsA C Verschuur
Department of Pediatric Oncology, Academic Medical Centre, University of Amsterdam, The Netherlands
Biol Chem 380:41-6. 1999..69), granulocytes (0.52) and erythrocytes (0.42). The activity of CTP synthase in whole blood samples was at an intermediate level (1.27). The mRNA expression of CTP synthase in monocytes was comparable to that observed in lymphocytes... - Effect of dehydroepiandrosterone supplementation on fatty acid and hormone levels in patients with X-linked adrenoleucodystrophyJ Assies
Department of Psychiatry, Academic Medical Centre, University of Amsterdam, The Netherlands
Clin Endocrinol (Oxf) 59:459-66. 2003..In animal studies DHEA administration had a peroxisome proliferating effect and induced the expression of peroxisomal enzymes involved in the beta-oxidation of fatty acids... - Dihydropyrimidinase deficiency: structural organization, chromosomal localization, and mutation analysis of the human dihydropyrimidinase geneN Hamajima
Department of Pediatrics, Nagoya City University Medical School, Nagoya City Higashi General Hospital, Nagoya, Japan
Am J Hum Genet 63:717-26. 1998..There was no significant difference, in residual activity, between mutations observed in the symptomatic and those observed in the asymptomatic individuals... - beta-Ureidopropionase deficiency: a novel inborn error of metabolism discovered using NMR spectroscopy on urineS H Moolenaar
Institute of Neurology, University Hospital Nijmegen, Nijmegen, The Netherlands
Magn Reson Med 46:1014-7. 2001..With 1D (1)H-NMR spectroscopy, UP deficiency can be easily diagnosed. The (1)H-NMR spectrum can also be used to diagnose patients suffering from other inborn errors of metabolism in the pyrimidine degradation pathway... - An aetiological study of 25 mentally retarded adults with autismC D M van Karnebeek
J Med Genet 39:205-13. 2002 - Plasma and erythrocyte fatty acid concentrations in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiencyA M Lund
Metabolic Department, Great Ormond Street Hospital for Children, London, UK
J Inherit Metab Dis 26:410-2. 2003..No significant abnormality was detected and in particular docosahexaenoic acid was not deficient...