A
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.
Papers
More filters
Journal ArticleDOI
beta-Ureidopropionase deficiency: an inborn error of pyrimidine degradation associated with neurological abnormalities.
André B.P. van Kuilenburg,Rutger Meinsma,Eva Beke,Birgit Assmann,Antonia Ribes,Isabel Lorente,Rebekka Busch,Ertan Mayatepek,Nico G.G.M. Abeling,Arno van Cruchten,A. E. M. Stroomer,Henk van Lenthe,Lida Zoetekouw,Willem Kulik,Georg F. Hoffmann,Thomas Voit,Ron A. Wevers,Frank Rutsch,Albert H. van Gennip +18 more
TL;DR: The results demonstrate that the N-carbamyl-beta-amino aciduria in these patients is due to a deficiency of beta-ureidopropionase, which is caused by mutations in the UPB1 gene, which might not be as rare as is generally considered.
Journal ArticleDOI
Late-onset MNGIE due to partial loss of thymidine phosphorylase activity
Ramon Martí,Jan J.G.M. Verschuuren,Alan L. Buchman,Ikuo Hirano,Saba Tadesse,André B.P. van Kuilenburg,Albert H. van Gennip,Ben J. H. M. Poorthuis,Michio Hirano +8 more
TL;DR: This report demonstrates a direct relationship between the biochemical defects and clinical phenotypes in MNGIE and supports the notion that reduction of dThd and dUrd accumulation or TP replacement could be useful therapy for MngIE.
Journal ArticleDOI
Defects in Pyrimidine Degradation Identified by HPLC-Electrospray Tandem Mass Spectrometry of Urine Specimens or Urine-soaked Filter Paper Strips
Henk van Lenthe,André B.P. van Kuilenburg,T Ito,T Ito,Albert H. Bootsma,Arno van Cruchten,Yoshiro Wada,Albert H. van Gennip +7 more
TL;DR: HPLC with electrospray ionization tandem mass spectrometry allows rapid testing for disorders of the pyrimidine degradation pathway, and filter-paper samples allow easy collection, transport, and storage of urine samples.
Journal ArticleDOI
beta-Ureidopropionase deficiency: a novel inborn error of metabolism discovered using NMR spectroscopy on urine.
Sytske H. Moolenaar,Gudrun Göhlich-Ratmann,Udo F. H. Engelke,Manfred Spraul,Eberhard Humpfer,Peter Dvortsak,Thomas Voit,Georg F. Hoffmann,C. Brautigam,André B.P. van Kuilenburg,Albert H. van Gennip,Peter Vreken,Ron A. Wevers +12 more
TL;DR: NMR investigations that led to the discovery of a new inborn error of metabolism, β‐ureidopropionase (UP) deficiency, are reported and the 1D 1H‐NMR spectrum can be used to diagnose patients suffering from other inborn errors of metabolism in the pyrimidine degradation pathway.
Journal ArticleDOI
Substrate preference of stress-activated phospholipase D in Chlamydomonas and its contribution to PA formation.
TL;DR: In this paper, G-protein activation (1 µm mastoparan), hyperosmotic stress (150mm NaCl) and membrane depolarization (50mm KCl) were used to stimulate PLD, as monitored by the accumulation in 5min of its unique transphosphatidylation product (PBut), identifying this lipid as PLD's favoured substrate.