Spanish BH4-responsive phenylalanine hydroxylase-deficient patients: Evolution of seven patients on long-term treatment with tetrahydrobiopterin

Molecular Genetics and Metabolism

Volumn 86, Issue SUPPL., 2005, Pages 61-66

  Bélanger Quintana, Amaya ^a   García, María José ^b   Castro, Margarita ^b   Desviat, Lourdes R ^b   Pérez, Belén ^b   Mejía, Blanca ^a   Ugarte, Magdalena ^b   Martínez Pardo, Mercedes ^a  

^a HOSPITAL RAMÓN Y CAJAL   (Spain)

^b CENTRO DE BIOLOGÍA MOLECULAR SEVERO OCHOA   (Spain)

Author keywords

BH4; BH4 loading test; PAH; Phenylalanine hydroxylase; Phenylketonuria; PKU; Tetrahydrobiopterin; Treatment

Indexed keywords

PHENYLALANINE; PHENYLALANINE 4 MONOOXYGENASE; TETRAHYDROBIOPTERIN; 5,6,7,8-TETRAHYDROBIOPTERIN; BIOPTERIN; DRUG DERIVATIVE;

ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; CLINICAL PROTOCOL; CONTROLLED STUDY; DIET; DIET RESTRICTION; DISEASE SEVERITY; DOSE RESPONSE; DRUG RESPONSE; FOLLOW UP; GENE MUTATION; GENOTYPE; HUMAN; HYPERPHENYLALANINEMIA; LOADING TEST; MISSENSE MUTATION; PHENYLKETONURIA; PRIORITY JOURNAL; PROTEIN INTAKE; SPAIN; ADOLESCENT; BLOOD; DIET THERAPY; GENETICS; INFANT; ORAL DRUG ADMINISTRATION; PRESCHOOL CHILD;

ADMINISTRATION, ORAL; ADOLESCENT; BIOPTERIN; CHILD; CHILD, PRESCHOOL; GENOTYPE; HUMANS; INFANT; MUTATION, MISSENSE; PHENYLALANINE; PHENYLALANINE HYDROXYLASE; PHENYLKETONURIAS;

EID: 28844448239     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2005.07.024     Document Type: Article

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