Hypoxanthine and Tetrahydrobiopterin Treatment of a Patient with Features of the Lesch-Nyhan Syndrome

Hypoxanthine‐guanine phosphoribosyltransferase variants: Correlation of clinical phenotype with enzyme activity

T Page, Bohdan Bakay, Erkki Nissinen et al. · Journal of Inherited Metabolic Disease · 1981 · 150 citations

Life Sciences, Genetics, Molecular Genetics +13

Age effect on dopamine and serotonin metabolite levels in cerebrospinal fluid

William E. Seifert, Jerry L. Foxx, Ian J. Butler · Annals of Neurology · 1980 · 125 citations

Life Sciences, Neurobiology, Neuroscience +9

Utilization of Purines by an HPRT Variant in an Intelligent, Nonmutilative Patient with Features of the Lesch-Nyhan Syndrome

Bohdan Bakay, Erkki Nissinen, Lawrence Sweetman et al. · Pediatric Research · 1979 · 49 citations

Life Sciences, Molecular Medicine, Human Genetics +6

Further Observations on the Use of 5-Hydroxytryptophan in a Child with Lesch-Nyhan Syndrome

Th. Anders, Howard M. Cann, Roland D. Ciaranello et al. · Neuropediatrics · 1978 · 29 citations

Medicine, Pharmacology, Pharmacotherapy +17

Kinetic studies of normal and variant hypoxanthine phosphoribosyltransferases in intact fibroblasts

Theodore Page, Bohdan Bakay, William L. Nyhan · Analytical Biochemistry · 1982 · 17 citations

Life Sciences, Biochemistry, Molecular Biology +3