A. E. M. Stroomer

Brown‐Vialetto‐Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD: a new inborn error of metabolism with potential treatment

Annet M. Bosch, N. G. G. M. Abeling, Lodewijk IJlst et al. · Journal of Inherited Metabolic Disease · 2010 · 240 citations · Full text

β-Ureidopropionase deficiency: an inborn error of pyrimidine degradation associated with neurological abnormalities

André B. P. Kuilenburg, Rutger Meinsma, Eva Beke et al. · Human Molecular Genetics · 2004 · 87 citations

Genetics, Molecular Biology, Escherichia Coli +16

New insights in dihydropyrimidine dehydrogenase deficiency: a pivotal role for beta-aminoisobutyric acid?

André B. P. Kuilenburg, A. E. M. Stroomer, Henk van Lenthe et al. · Biochemical Journal · 2004 · 62 citations · Full text

Aldo-keto Reductase, Genetics, Molecular Biology +23

Application of simple chromatographic methods for the diagnosis of defects in pyrimidine degradation

A. H. van Gennip, Sandra Busch, L. Elzinga et al. · Clinical Chemistry · 1993 · 59 citations

Pyrimidine Degradation Defects, Gas Chromatography, Analytical Pyrolysis +19

Clinical and biochemical findings in six patients with pyrimidine degradation defects

Albert H. Gennip, N. G. G. M. Abeling, A. E. M. Stroomer et al. · Journal of Inherited Metabolic Disease · 1994 · 46 citations

Biochemical Findings, Biochemistry, Medicine +5