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A. H. van Gennip
Researcher at University of Amsterdam
Publications - 63
Citations - 2800
A. 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 23, co-authored 63 publications receiving 2675 citations. Previous affiliations of A. H. van Gennip include Maastricht University Medical Centre & Maastricht University.
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Journal ArticleDOI
Reduced replication of 3TC-resistant HIV-1 variants in primary cells due to a processivity defect of the reverse transcriptase enzyme.
Nicole K. T. Back,M. Nijhuis,Wilco Keulen,Charles A. Boucher,B O Oude Essink,A. B. P. Van Kuilenburg,A. H. van Gennip,Ben Berkhout +7 more
TL;DR: If the level of virus replication can be similarly reduced in 3TC‐treated patients that develop drug‐resistant HIV‐1 variants, this may be of considerable clinical benefit.
Journal Article
X-linked borderline mental retardation with prominent behavioral disturbance: phenotype, genetic localization, and evidence for disturbed monoamine metabolism.
Han G. Brunner,Marcel R. Nelen,P. M. van Zandvoort,N. G. G. M. Abeling,A. H. van Gennip,Erik Ch. Wolters,Michael A. Kuiper,H.-H. Ropers,B.A. van Oost +8 more
TL;DR: Normal platelet MAOB activity suggests that the unusual behavior pattern in this family may be caused by isolated MAOA deficiency, which is compatible with a primary defect in the structural gene for MAOA and/or monoamine oxidase type B (MAOB).
Journal ArticleDOI
Genotype and phenotype in patients with dihydropyrimidine dehydrogenase deficiency.
A. B. P. Van Kuilenburg,Peter Vreken,N. G. G. M. Abeling,Henk D. Bakker,Rutger Meinsma,H. van Lenthe,R.A. de Abreu,Jan A.M. Smeitink,Hülya Kayserili,Memnune Yüksel Apak,Ernst Christensen,I. Holopainen,Kari Pulkki,Daria Riva,G. Botteon,Elisabeth Holme,Mar Tulinius,W. J. Kleijer,Frits A. Beemer,M. Duran,K. E. Niezen-Koning,Gerrit Smit,Cornelis Jakobs,L. M. E. Smit,A. H. van Gennip +24 more
TL;DR: Analysis of the prevalence of the various mutations among DPD patients has shown that the G→A point mutation in the invariant splice donor site is by far the most common (52%), whereas the other six mutations are less frequently observed.
Journal ArticleDOI
Quantitative plasma acylcarnitine analysis using electrospray tandem mass spectrometry for the diagnosis of organic acidaemias and fatty acid oxidation defects.
Peter Vreken,A. E. M. van Lint,Albert H. Bootsma,H. Overmars,R. J. A. Wanders,A. H. van Gennip +5 more
TL;DR: A quantitative ESI-MS/MS acylcarnitine analysis in plasma is developed and shows that this analysis is highly sensitive and reproducible and therefore suitable for selective screening of fatty acid oxidation defects, organic acidaemias and secondary carnitine deficiency.
Journal ArticleDOI
Clinical features of galactokinase deficiency:A review of the literature
Annet M. Bosch,Henk D. Bakker,A. H. van Gennip,J. V. van Kempen,R. J. A. Wanders,Frits A. Wijburg +5 more
TL;DR: Inhibition of galactokinase may be a promising approach for controlling damage in GALT-deficient patients, as long-term follow-up of patients with this disorder has shown that most patients develop abnormalities such as a disturbed mental and/or motor development, dyspraxia and hypergonadotropic hypogonadism.