Tetrahydrobiopterin responsiveness in phenylketonuria: prediction with the 48-hour loading test and genotype

Tetrahydrobiopterin as an Alternative Treatment for Mild Phenylketonuria

Ania C. Muntau, Wulf Röschinger, Matthias Habich et al. · New England Journal of Medicine · 2002 · 301 citations · Full text

How practical are recommendations for dietary control in phenylketonuria?

JH Walter, F. White, SK Hall et al. · The Lancet · 2002 · 292 citations

Nutrition, Dietary Control, Clinical Nutrition +4

Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency

Marcel R. Zurflüh, Johannes Zschocke, Martin Lindner et al. · Human Mutation · 2007 · 179 citations

Engineering, Genetics, Genetic Epidemiology +19

Long-term treatment with tetrahydrobiopterin increases phenylalanine tolerance in children with severe phenotype of phenylketonuria

Julia B. Hennermann, Christoph Bührer, Nenad Blau et al. · Molecular Genetics and Metabolism · 2005 · 107 citations

Chronic Kidney Disease, Long-term Treatment, Inherited Metabolic Disease +3

Challenges and Pitfalls in the Management of Phenylketonuria

François Feillet, Francjan J. van Spronsen, Anita MacDonald et al. · PEDIATRICS · 2010 · 107 citations

Nutrition, Metabolic Disorder, Phenylalanine-restricted Diet +16