Assessment of tetrahydrobiopterin (BH4)-responsiveness and spontaneous phenylalanine reduction in a phenylalanine hydroxylase deficiency population

Molecular Genetics and Metabolism

Volumn 107, Issue 1-2, 2012, Pages 37-42

  Tansek, Mojca Zerjav ^a   Groselj, Urh ^a   Murko, Simona ^a   Kobe, Helena ^a   Lampret, Barbka Repic ^a   Battelino, Tadej ^a,b  

^a UNIVERSITY CHILDREN S HOSPITAL   (Slovenia)

^b UNIVERSITY OF LJUBLJANA   (Slovenia)

Author keywords

BH4 responsiveness; PAH; Phe; Phenylketonuria; PKU; Tetrahydrobiopterin

Indexed keywords

PHENYLALANINE; PHENYLALANINE 4 MONOOXYGENASE; SAPROPTERIN;

ADOLESCENT; ADULT; AMINO ACID BLOOD LEVEL; ARTICLE; CHILD; CLINICAL ARTICLE; DATA BASE; FEMALE; GENE MUTATION; GENOTYPE; HUMAN; MALE; PHENOTYPE; PHENYLKETONURIA; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN BLOOD LEVEL; PROTEIN INTAKE; SCHOOL CHILD; SINGLE DRUG DOSE; TREATMENT RESPONSE;

ADOLESCENT; BIOPTERIN; CHILD; CHILD, PRESCHOOL; FEMALE; HUMANS; INFANT; MALE; MUTATION; PHENYLALANINE; PHENYLALANINE HYDROXYLASE; PHENYLKETONURIAS; TREATMENT OUTCOME; YOUNG ADULT;

EID: 84866143505     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2012.07.010     Document Type: Article

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