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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
Dihydropyrimidine dehydrogenase pharmacogenetics in Caucasian subjects
Susan A Ridge,Julieann Sludden,Oliver Brown,Leigh Robertson,Xiaoxiong Wei,A. Sapone,Pedro M. Fernández-Salguero,Frank J. Gonzalez,Peter Vreken,André B.P. van Kuilenburg,Albert H. van Gennip,Howard L. McLeod +11 more
TL;DR: The five mutations analysed in this study are insufficient for identification of patients at risk for 5FU toxicity or thymine uraciluria, and identification of further molecular alterations is required to facilitate the use of DPD analysis in genetic diagnosis and cancer therapeutics.
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Quantitative and Compositional Study of Cardiolipin in Platelets by Electrospray Ionization Mass Spectrometry: Application for the Identification of Barth Syndrome Patients
TL;DR: Quantitative and compositional analyses of CL in platelets by the proposed method allow identification of BTHS patients more rapidly than gene analysis or analysis ofCL in cultured skin fibroblasts.
Journal Article
Dihydropyrimidinase Deficiency and Severe 5-Fluorouracil Toxicity
André B.P. van Kuilenburg,Rutger Meinsma,Bernard A Zonnenberg,Lida Zoetekouw,Frank Baas,Koichi Matsuda,Nanaya Tamaki,Albert H. van Gennip +7 more
TL;DR: It is demonstrated for the first time that in one patient the severe toxicity, after a treatment with 5FU, was attributable to a partial deficiency of DHP.
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Rapid Screening of High-Risk Patients for Disorders of Purine and Pyrimidine Metabolism Using HPLC-Electrospray Tandem Mass Spectrometry of Liquid Urine or Urine-soaked Filter Paper Strips
T Ito,T Ito,André B.P. van Kuilenburg,Albert H. Bootsma,Anja J. Haasnoot,Arno van Cruchten,Yoshiro Wada,Albert H. van Gennip +7 more
TL;DR: HPLC-ESI MS/MS of urine allows rapid screening for disorders of purine and pyrimidine metabolism and the filter paper strips offer the advantage of easy collection, transport, and storage of the urine samples.
Journal ArticleDOI
Novel disease-causing mutations in the dihydropyrimidine dehydrogenase gene interpreted by analysis of the three-dimensional protein structure.
André B.P. van Kuilenburg,Doreen Dobritzsch,Rutger Meinsma,Janet Haasjes,Hans R. Waterham,Małgorzata J.M. Nowaczyk,George D Maropoulos,Guido Hein,Hermann Kalhoff,Jean M Kirk,Holger Baaske,Anne Aukett,John A. Duley,Kate P Ward,Ylva Lindqvist,Albert H. van Gennip +15 more
TL;DR: Analysis of the crystal structure of pig DPD suggested that five out of eight amino acid exchanges present in these patients with a complete DPD deficiency, Pro86Leu, Ser201Arg, Ser492Leo, Asp949Val and His978Arg, interfered directly or indirectly with cofactor binding or electron transport and the structural integrity of the DPD protein.