Tetrahydrobiopterin, its Mode of Action on Phenylalanine Hydroxylase, and Importance of Genotypes for Pharmacological Therapy of Phenylketonuria

Human Mutation

Volumn 34, Issue 7, 2013, Pages 927-936

  Heintz, Caroline ^a   Cotton, Richard G H ^b   Blau, Nenad ^a,c,d  

^a UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^b Human Variome Project International Ltd   (Australia)

^c UNIVERSITY OF ZURICH   (Switzerland)

^d UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

Author keywords

BH4; Chaperones; Hyperphenylalaninemia; PKU; Sapropterin

Indexed keywords

PHENYLALANINE 4 MONOOXYGENASE; PHENYLALANINE AMMONIA LYASE; SAPROPTERIN; TETRAHYDROBIOPTERIN;

CRYSTAL STRUCTURE; DRUG MECHANISM; ENZYME ACTIVITY; ENZYME KINETICS; GENE; GENE MUTATION; GENETIC TRANSFECTION; GENOTYPE; HUMAN; IN VITRO STUDY; LOADING TEST; NONHUMAN; PHENYLALANINE 4 MONOOXYGENASE GENE; PHENYLKETONURIA; PRIORITY JOURNAL; PROTEIN EXPRESSION; REVIEW;

BIOPTERIN; GENOTYPE; HUMANS; MODELS, MOLECULAR; MUTATION; PHENYLALANINE HYDROXYLASE; PHENYLKETONURIAS; TREATMENT OUTCOME;

EID: 84879420029     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22320     Document Type: Review

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