P.K. De Bree

Purine Nucleoside Phosphorylase Deficiency Associated with Selective Cellular Immunodeficiency

J. W. Stoop, B.J.M. Zegers, G. F. M. Hendrickx et al. · New England Journal of Medicine · 1977 · 196 citations

Life Sciences, Biochemistry, Immunology +16

Hereditary Mitochondrial Myopathy with Lactic Acidemia, A DeToni-Fanconi-Debr?? Syndrome, and a Defective Respiratory Chain in Voluntary Striated Muscles

J. P. G. M. Van Biervliet, L. Bruinvis, D. Ketting et al. · Pediatric Research · 1977 · 176 citations

Medicine, Genetics, Molecular Genetics +17

Combined deficiency of xanthine oxidase and sulphite oxidase: A defect of molybdenum metabolism or transport?

M. Durán, F. A. Beemer, Colin van der Heiden et al. · Journal of Inherited Metabolic Disease · 1978 · 127 citations

Life Sciences, Biochemistry, Physiology +17

Dihydropyrimidine dehydrogenase deficiency leading to thymine-uraciluria. An inborn error of pyrimidine metabolism

Rolf M.F. Berger, S. A. Stoker‐de Vries, S.K. Wadman et al. · Clinica Chimica Acta · 1984 · 100 citations · Full text

Life Sciences, Biochemistry, Genetics +9

Dihydropyrimidinuria: a new inborn error of pyrimidine metabolism

M. Durán, P. Rovers, P.K. De Bree et al. · Journal of Inherited Metabolic Disease · 1991 · 54 citations

Life Sciences, Biochemistry, Genetics +10