Tetrahydrobiopterin responsiveness in patients with phenylketonuria

Clinical Biochemistry

Volumn 37, Issue 12, 2004, Pages 1083-1090

  Pérez Dueñas, Belén ^a   Vilaseca, Maria Antonia ^a,b   Mas, Anna ^a   Lambruschini, Nilo ^a   Artuch, Rafael ^a   Gómez, Lilian ^a   Pineda, Julia ^a   Gutiérrez, Alejandra ^a   Mila, Montse ^a   Campistol, Jaume ^a  

^a UNIVERSITY OF BARCELONA   (Spain)

^b Sant Joan de Deu Children's Hospital   (Spain)

Author keywords

BH 4 responsiveness; Hyperphenylalaninemia; PAH deficiency; PAH gene mutations; Phenylketonuria; PKU; Tetrahydrobiopterin

Indexed keywords

PHENYLALANINE; TETRAHYDROBIOPTERIN;

ADOLESCENT; ADULT; ANALYSIS OF VARIANCE; ARTICLE; CHILD; CONTROLLED STUDY; DIET THERAPY; DISEASE SEVERITY; HUMAN; INFANT; LOADING TEST; MAJOR CLINICAL STUDY; MUTATION; PATIENT; PHENOTYPE; PHENYLKETONURIA; PREDICTION; PRIORITY JOURNAL; TIME; TREATMENT OUTCOME;

ADOLESCENT; ADULT; BIOPTERIN; CHILD, PRESCHOOL; DOSE-RESPONSE RELATIONSHIP, DRUG; FEMALE; HUMANS; INFANT; MUTATION; PHENOTYPE; PHENYLALANINE; PHENYLKETONURIAS; PREGNANCY;

EID: 20844440010     PISSN: 00099120     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.clinbiochem.2004.09.005     Document Type: Article

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