Friedrich K. Trefz

The Genetic Landscape and Epidemiology of Phenylketonuria

Alicia Hillert, Yair Anikster, Amaya Bélanger-Quintana et al. · The American Journal of Human Genetics · 2020 · 380 citations · Full text

Life Sciences, Genetics, Molecular Genetics +8

Efficacy of sapropterin dihydrochloride (tetrahydrobiopterin, 6R-BH4) for reduction of phenylalanine concentration in patients with phenylketonuria: a phase III randomised placebo-controlled study

Harvey L. Levy, Andrzej Milanowski, Anupam Chakrapani et al. · The Lancet · 2007 · 311 citations

Pharmacy, Pharmacotherapy, Clinical Nutrition +6

Clinical and Biochemical Phenotype in 11 Patients With Mevalonic Aciduria

G.F. Hoffmann, C. Charpentier, Ertan Mayatepek et al. · PEDIATRICS · 1993 · 291 citations

Life Sciences, Biochemistry, Clinical Biochemistry +12

Molecular Basis of Phenotypic Heterogeneity in Phenylketonuria

Yoshiyuki Okano, Randy C. Eisensmith, Flemming Güttler et al. · New England Journal of Medicine · 1991 · 239 citations

Life Sciences, Genetics, Molecular Genetics +16

Efficacy of Sapropterin Dihydrochloride in Increasing Phenylalanine Tolerance in Children with Phenylketonuria: A Phase III, Randomized, Double-Blind, Placebo-Controlled Study

Friedrich K. Trefz, Barbara K. Burton, Nicola Longo et al. · The Journal of Pediatrics · 2009 · 192 citations

Pharmacy, Pediatrics, Pharmacotherapy +7