A. H. van Gennip

X-linked borderline mental retardation with prominent behavioral disturbance: phenotype, genetic localization, and evidence for disturbed monoamine metabolism.

Han G. Brunner, Marcel Nelen, Peter van Zandvoort et al. · PubMed · 1993 · 369 citations

Clinical implications of dihydropyrimidine dehydrogenase (DPD) deficiency in patients with severe 5-fluorouracil-associated toxicity: identification of new mutations in the DPD gene.

André B. P. Kuilenburg, Janet Haasjes, Dick J. Richel et al. · Data Archiving and Networked Services (DANS) · 2000 · 360 citations

Prevalence of a common point mutation in the dihydropyrimidine dehydrogenase (DPD) gene within the 5'-splice donor site of intron 14 in patients with severe 5-fluorouracil (5-FU)- related toxicity compared with controls.

Martin Kristian Raida, Wolfgang Schwabe, Peter Häusler et al. · PubMed · 2001 · 232 citations

Genetics, Genetic Epidemiology, Pathology +16

L‐2‐Hydroxyglutaric aciduria: an inborn error of metabolism?

M. Durán, J.P. Kamerling, H. D. Bakker et al. · Journal of Inherited Metabolic Disease · 1980 · 220 citations

Specific genetic deficiencies of the A and B isoenzymes of monoamine oxidase are characterized by distinct neurochemical and clinical phenotypes.

Jacques W.M. Lenders, Graeme Eisenhofer, N.G.G.M. Abeling et al. · Journal of Clinical Investigation · 1996 · 152 citations · Full text

Genetics, Neurochemical Biomarkers, Mendelian Disorder +17