P
Peter Vreken
Researcher at University of Amsterdam
Publications - 71
Citations - 4525
Peter Vreken is an academic researcher from University of Amsterdam. The author has contributed to research in topics: Dihydropyrimidine dehydrogenase deficiency & Peroxisome. The author has an hindex of 30, co-authored 71 publications receiving 4309 citations.
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Journal Article
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. P. Van Kuilenburg,Janet Haasjes,Dick J. Richel,Lida Zoetekouw,G.H. van Lenthe,R.A. de Abreu,J. G. Maring,Peter Vreken,A. H. van Gennip +8 more
TL;DR: This study demonstrated that in 59% of the cases, a decreased DPD activity could be detected in peripheral blood mononuclear cells and demonstrated that at least 57% (8 of 14) of the patients with a reduced D PD activity have a molecular basis for their deficient phenotype.
Journal ArticleDOI
Defective Remodeling of Cardiolipin and Phosphatidylglycerol in Barth Syndrome
Peter Vreken,Fredoen Valianpour,Leo G.J. Nijtmans,Les A. Grivell,Barbara Plecko,Ronald J.A. Wanders,Peter G. Barth +6 more
TL;DR: Evidence is presented that patients with the rare disorder X-linked cardioskeletal myopathy and neutropenia (Barth syndrome, MIM 302060) have a primary defect in CL and PG remodeling, and an essential factor in this important cellular process is identified for the first time.
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Mutations in the 3β-Hydroxysterol Δ24-Reductase Gene Cause Desmosterolosis, an Autosomal Recessive Disorder of Cholesterol Biosynthesis
Hans R. Waterham,Janet Koster,G. J. Romeijn,Raoul C.M. Hennekam,Peter Vreken,Hans C. Andersson,David R. FitzPatrick,Richard I. Kelley,Ronald J.A. Wanders +8 more
TL;DR: The data demonstrate that desmosterolosis is a cholesterol-biosynthesis disorder caused by mutations in DHCR24, a recently defined family of flavin adenine dinucleotide (FAD)–dependent oxidoreductases.
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Peroxisomal fatty acid alpha- and beta-oxidation in humans: enzymology, peroxisomal metabolite transporters and peroxisomal diseases.
R. J. A. Wanders,Peter Vreken,Sacha Ferdinandusse,Gerrit Jansen,Hans R. Waterham,C. W. T. van Roermund,E. G. van Grunsven +6 more
TL;DR: The current state of knowledge about peroxisomal fatty acid α- and β-oxidation is described with particular emphasis on the enzymology of the β- and α-oxidized substrates and the interaction with other subcellular compartments.
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Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase gene.
Hans R. Waterham,Frits A. Wijburg,Raoul C.M. Hennekam,Peter Vreken,Bwee Tien Poll-The,Lambertus Dorland,Marinus Duran,Petr E. Jira,Jan A.M. Smeitink,Ron A. Wevers,Ronald J.A. Wanders +10 more
TL;DR: Data demonstrate that Smith-Lemli-Opitz syndrome is caused by mutations in the gene coding for 7-dehydrocholesterol reductase, which catalyzes the final step in the cholesterol-biosynthesis pathway.