W.O. Renier

Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis

Michèl A.A.P. Willemsen, Marcel M. Verbeek, Erik‐Jan Kamsteeg et al. · Brain · 2010 · 228 citations · Full text

A mitochondrial encephalomyopathy: the first case with an established defect at the level of coenzyme Q

Johan Fischer, W. Ruitenbeek, F.J.M. Gabreëls et al. · European Journal of Pediatrics · 1986 · 166 citations

Mitochondrial Myopathy, Mitochondrial Function, Biochemistry +8

Elevated urine, blood and cerebrospinal fluid levels of uracil and thymine in a child with dihydrothymine dehydrogenase deficiency

J. A. J. M. Bakkeren, Ronney A. De Abreu, R. C. A. Sengers et al. · Clinica Chimica Acta · 1984 · 101 citations

Urology, Parathyroid Hormone, Dihydrothymine Dehydrogenase Deficiency +4

Defective cystathionine beta-synthase regulation by S-adenosylmethionine in a partially pyridoxine responsive homocystinuria patient.

Leo A. J. Kluijtmans, G. H. J. Boers, E M Stevens et al. · Journal of Clinical Investigation · 1996 · 98 citations · Full text

Molecular Pharmacology, Biosynthesis, Protein Expression +12

Axilla skin biopsy: A reliable test for the diagnosis of Lafora's disease

H. L. S. M. Busard, A.A.W.M. Gabreëls‐Festen, W.O. Renier et al. · Annals of Neurology · 1987 · 54 citations