Associated Papers
Allelic phenotype values: a model for genotype-based phenotype prediction in phenylketonuria.
Garbade SF et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Tetrahydrobiopterin responsiveness in phenylketonuria: prediction with the 48-hour loading test and genotype.
Anjema K et al.
Orphanet Journal of Rare Diseases, 2013
23842451 (PubMed )
Supplement: 1750-1172-8-103-S1.pdf
Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency.
Zurflüh MR et al.
Human Mutation, 2008
Phenylketonuria mutations in Northern China.
Song F et al.
Molecular Genetics and Metabolism, 2005
A structural hypothesis for BH4 responsiveness in patients with mild forms of hyperphenylalaninaemia and phenylketonuria.
Erlandsen H et al.
Journal of Inherited Metabolic Disease, 2001
Identification of seven new mutations in the phenylalanine hydroxylase gene, associated with hyperphenylalaninemia in the Belgian population.
Michiels L et al.
Human Mutation, 1998
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