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Albert H. van Gennip
Researcher at University of Amsterdam
Publications - 52
Citations - 5186
Albert H. van Gennip is an academic researcher from University of Amsterdam. The author has contributed to research in topics: Dihydropyrimidine dehydrogenase & Dihydropyrimidine dehydrogenase deficiency. The author has an hindex of 25, co-authored 51 publications receiving 4885 citations. Previous affiliations of Albert H. van Gennip include Maastricht University.
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Journal ArticleDOI
Cardiolipin deficiency in X-linked cardioskeletal myopathy and neutropenia (Barth syndrome, MIM 302060): a study in cultured skin fibroblasts
Fredoen Valianpour,Ronald Ja Wanders,H. Overmars,Peter Vreken,Albert H. van Gennip,Frank Baas,Barbara Plecko,René Santer,Kolja Becker,Peter G. Barth +9 more
TL;DR: Cardiolipin concentrations in cultured skin fibroblasts of 5 patients with X-linked cardioskeletal myopathy and neutropenia and in two groups of control patients were determined to offer a specific biochemical approach to detect this disorder.
Journal ArticleDOI
Pitfalls in the Diagnosis of Patients with a Partial Dihydropyrimidine Dehydrogenase Deficiency
André B.P. van Kuilenburg,Henk van Lenthe,Annelies Tromp,Patricia C.J. Veltman,Albert H. van Gennip +4 more
TL;DR: The low activity of DPD measured in PBM cells containing myeloid cells or that measured at a low protein concentration in the assay mixture is not indicative of heterozygosity for a mutant DPD allele, and fibroblasts are suitable to establish a complete deficiency of D PD.
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1H-NMR Spectroscopy of Body Fluids: Inborn Errors of Purine and Pyrimidine Metabolism
Ron A. Wevers,Udo F. H. Engelke,Sytske H. Moolenaar,C. Brautigam,Jan G.N. de Jong,Ries Duran,Ronney A. de Abreu,Albert H. van Gennip +7 more
TL;DR: The overview of metabolism that is provided by 1H-NMR spectroscopy makes the technique a valuable screening tool in the detection of inborn errors of purine and pyrimidine metabolism.
Journal ArticleDOI
Mrp2-deficiency in the rat impairs biliary and intestinal excretion and influences metabolism and disposition of the food-derived carcinogen 2-amino-1-methyl-6-phenylimidazo[4,5-b]pyridine (PhIP)
Christoph G. Dietrich,D. Rudi de Waart,Roel Ottenhoff,Albert H. Bootsma,Albert H. van Gennip,Ronald P.J. Oude Elferink +5 more
TL;DR: It is concluded that Mrp2 protects against the carcinogen PhIP by biliary excretion of the parent compound and all major phase-II metabolites, but, more importantly, also by direct extrusion of theparent compound from the gut mucosa.
Journal ArticleDOI
Pharmacogenetic and clinical aspects of dihydropyrimidine dehydrogenase deficiency.
TL;DR: Considering the common use of 5FU in the treatment of cancer patients, the severe 5FU-related toxicities in patients with a low DPD activity and the high prevalence of the IVS14 + 1G→A mutation should be routinely carried out prior to the start of treatment with 5FU.