Atypical phenylketonuria with defective biopterin metabolism. Monotherapy with tetrahydrobiopterin or sepiapterin, screening und study of biosynthesis in man

Phenylketonuria Due to a Deficiency of Dihydropteridine Reductase

Seymour Kaufman, Neil A. Holtzman, Sheldon Milstien et al. · New England Journal of Medicine · 1975 · 314 citations

Life Sciences, Biochemistry, Endocrinology +15

Hyperphenylalaninemia Due to a Deficiency of Biopterin

Seymour Kaufman, Stanley Berlow, George K. Summer et al. · New England Journal of Medicine · 1978 · 189 citations

Life Sciences, Biochemistry, Endocrinology +15

NEW VARIANT OF PHENYLKETONURIA WITH PROGRESSIVE NEUROLOGICAL ILLNESS UNRESPONSIVE TO PHENYLALANINE RESTRICTION

I Smith, B. E. Clayton, O. Wolff · The Lancet · 1975 · 140 citations

Life Sciences, Neurology, Neuroscience +5

Atypical phenylketonuria due to tetrahydrobiopterin deficiency. Diagnosis and treatment with tetrahydrobiopterin, dihydrobiopterin and sepiapterin

H.‐Ch. Curtius, A. Niederwieser, M. Viscontini et al. · Clinica Chimica Acta · 1979 · 118 citations

Life Sciences, Endocrinology, Internal Medicine +5

Malignant hyperphenylalaninaemia—Current status (June 1977)

D. M. Danks, K. Bartholomé, B. E. Clayton et al. · Journal of Inherited Metabolic Disease · 1978 · 107 citations

Medicine, Endocrinology, Neoplasia +2