Tetrahydrobiopterin responsiveness after extended loading test of 12 Danish PKU patients with the Y414C mutation

Journal of Inherited Metabolic Disease

Volumn 33, Issue 1, 2010, Pages 9-16

  Nielsen, Jytte Bieber ^a   Nielsen, Karin E ^a   Güttler, Flemming ^a  

^a JOHN F KENNEDY INSTITUTE   (Denmark)

Author keywords

[No Author keywords available]

Indexed keywords

PHENYLALANINE; PHENYLALANINE 4 MONOOXYGENASE; TETRAHYDROBIOPTERIN;

ADOLESCENT; ADULT; AMINO ACID BLOOD LEVEL; ARTICLE; BLOOD SAMPLING; CHILD; CLINICAL ARTICLE; CLINICAL PROTOCOL; DENMARK; DOSE RESPONSE; DRUG ABSORPTION; DRUG DOSE REDUCTION; DRUG METABOLISM; DRUG RESPONSE; FATIGUE; FEMALE; GENE MUTATION; GENOTYPE; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; LOADING TEST; MALE; PHENYLKETONURIA; PROTEIN INTAKE; SCHOOL CHILD;

ADOLESCENT; ADULT; BIOPTERIN; CHILD; DENMARK; FEMALE; HETEROZYGOTE; HOMOZYGOTE; HUMANS; MALE; MUTATION; PHENYLALANINE; PHENYLALANINE HYDROXYLASE; PHENYLKETONURIAS; TREATMENT OUTCOME;

EID: 77649233104     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-009-9002-0     Document Type: Article

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