P Vreken

Summary

Affiliation: Academic Medical Center
Country: The Netherlands

Publications

  1. ncbi Rapid diagnosis of organic acidemias and fatty-acid oxidation defects by quantitative electrospray tandem-MS acyl-carnitine analysis in plasma
    P Vreken
    University of Amsterdam, Dept of Clinical Chemistry, The Netherlands
    Adv Exp Med Biol 466:327-37. 1999
  2. ncbi Defective remodeling of cardiolipin and phosphatidylglycerol in Barth syndrome
    P Vreken
    Department of Clinical Chemistry, Academic Medical Center, Amsterdam, 1100 DE, The Netherlands
    Biochem Biophys Res Commun 279:378-82. 2000
  3. ncbi Rapid stable isotope dilution analysis of very-long-chain fatty acids, pristanic acid and phytanic acid using gas chromatography-electron impact mass spectrometry
    P 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
  4. ncbi cDNA cloning, genomic structure and chromosomal localization of the human BUP-1 gene encoding beta-ureidopropionase
    P Vreken
    Academic Medical Center, Departments of Clinical Chemistry and Division Emma Children s Hospital, Amsterdam, Netherlands
    Biochim Biophys Acta 1447:251-7. 1999
  5. ncbi Dihydropyrimidine dehydrogenase (DPD) deficiency: identification and expression of missense mutations C29R, R886H and R235W
    P Vreken
    Academic Medical Center, University of Amsterdam, The Netherlands
    Hum Genet 101:333-8. 1997
  6. ncbi Identification of a four-base deletion (delTCAT296-299) in the dihydropyrimidine dehydrogenase gene with variable clinical expression
    P Vreken
    University of Amsterdam, Department of Pediatrics, The Netherlands
    Hum Genet 100:263-5. 1997
  7. ncbi Clinical implications of dihydropyrimidine dehydrogenase (DPD) deficiency in patients with severe 5-fluorouracil-associated toxicity: identification of new mutations in the DPD gene
    A 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
  8. ncbi Identification of novel point mutations in the dihydropyrimidine dehydrogenase gene
    P Vreken
    University of Amsterdam, Department of Pediatrics, The Netherlands
    J Inherit Metab Dis 20:335-8. 1997
  9. pmc Mutations in the 3beta-hydroxysterol Delta24-reductase gene cause desmosterolosis, an autosomal recessive disorder of cholesterol biosynthesis
    H 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
  10. ncbi Peroxisomal fatty acid alpha- and beta-oxidation in humans: enzymology, peroxisomal metabolite transporters and peroxisomal diseases
    R 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

Collaborators

Detail Information

Publications29

  1. ncbi Rapid diagnosis of organic acidemias and fatty-acid oxidation defects by quantitative electrospray tandem-MS acyl-carnitine analysis in plasma
    P Vreken
    University of Amsterdam, Dept of Clinical Chemistry, The Netherlands
    Adv Exp Med Biol 466:327-37. 1999
    ....
  2. ncbi Defective remodeling of cardiolipin and phosphatidylglycerol in Barth syndrome
    P 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...
  3. ncbi Rapid stable isotope dilution analysis of very-long-chain fatty acids, pristanic acid and phytanic acid using gas chromatography-electron impact mass spectrometry
    P 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...
  4. ncbi cDNA cloning, genomic structure and chromosomal localization of the human BUP-1 gene encoding beta-ureidopropionase
    P 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...
  5. ncbi Dihydropyrimidine dehydrogenase (DPD) deficiency: identification and expression of missense mutations C29R, R886H and R235W
    P 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...
  6. ncbi Identification of a four-base deletion (delTCAT296-299) in the dihydropyrimidine dehydrogenase gene with variable clinical expression
    P 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...
  7. ncbi Clinical implications of dihydropyrimidine dehydrogenase (DPD) deficiency in patients with severe 5-fluorouracil-associated toxicity: identification of new mutations in the DPD gene
    A 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...
  8. ncbi Identification of novel point mutations in the dihydropyrimidine dehydrogenase gene
    P Vreken
    University of Amsterdam, Department of Pediatrics, The Netherlands
    J Inherit Metab Dis 20:335-8. 1997
  9. pmc Mutations in the 3beta-hydroxysterol Delta24-reductase gene cause desmosterolosis, an autosomal recessive disorder of cholesterol biosynthesis
    H 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...
  10. ncbi Peroxisomal fatty acid alpha- and beta-oxidation in humans: enzymology, peroxisomal metabolite transporters and peroxisomal diseases
    R 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
    ....
  11. ncbi Identification of a cDNA encoding an isoform of human CTP synthetase
    A 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...
  12. ncbi A point mutation in an invariant splice donor site leads to exon skipping in two unrelated Dutch patients with dihydropyrimidine dehydrogenase deficiency
    P 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...
  13. ncbi Plasma analysis of di- and trihydroxycholestanoic acid diastereoisomers in peroxisomal alpha-methylacyl-CoA racemase deficiency
    S 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...
  14. ncbi Genotype and phenotype in patients with dihydropyrimidine dehydrogenase deficiency
    A 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...
  15. ncbi Disorders of mitochondrial fatty acyl-CoA beta-oxidation
    R 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...
  16. ncbi Mutations in the gene encoding peroxisomal alpha-methylacyl-CoA racemase cause adult-onset sensory motor neuropathy
    S 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...
  17. ncbi 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...
  18. ncbi Stereochemistry of the peroxisomal branched-chain fatty acid alpha- and beta-oxidation systems in patients suffering from different peroxisomal disorders
    S Ferdinandusse
    University of Amsterdam, Academic Medical Center, Department of Clinical Chemistry, Amsterdam, The Netherlands
    J Lipid Res 43:438-44. 2002
    ....
  19. ncbi Late onset white matter disease in peroxisome biogenesis disorder
    P 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)...
  20. ncbi 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
    ....
  21. pmc Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase gene
    H 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...
  22. pmc Peroxisomal D-hydroxyacyl-CoA dehydrogenase deficiency: resolution of the enzyme defect and its molecular basis in bifunctional protein deficiency
    E 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...
  23. ncbi Significantly reduced docosahexaenoic and docosapentaenoic acid concentrations in erythrocyte membranes from schizophrenic patients compared with a carefully matched control group
    J 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...
  24. ncbi Cytidine triphosphate synthase activity and mRNA expression in normal human blood cells
    A 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...
  25. ncbi Effect of dehydroepiandrosterone supplementation on fatty acid and hormone levels in patients with X-linked adrenoleucodystrophy
    J 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...
  26. pmc Dihydropyrimidinase deficiency: structural organization, chromosomal localization, and mutation analysis of the human dihydropyrimidinase gene
    N 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...
  27. ncbi beta-Ureidopropionase deficiency: a novel inborn error of metabolism discovered using NMR spectroscopy on urine
    S 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...
  28. pmc An aetiological study of 25 mentally retarded adults with autism
    C D M van Karnebeek
    J Med Genet 39:205-13. 2002
  29. ncbi Plasma and erythrocyte fatty acid concentrations in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
    A 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...