Optimized loading test to evaluate responsiveness to tetrahydrobiopterin (BH 4) in Brazilian patients with phenylalanine hydroxylase deficiency

Molecular Genetics and Metabolism

Volumn 104, Issue SUPPL., 2011, Pages

  Nalin, Tatiéle ^a   Perry, Ingrid Dalira Schweigert ^b   Sitta, Angela ^a   Vargas, Carmen Regla ^a,b   Saraiva Pereira, Maria Luiza ^a,b   Giugliani, Roberto ^a,b,c   Blau, Nenad ^d,e   Schwartz, Ida Vanessa Doederlein ^a,b  

^a FEDERAL UNIVERSITY OF RIO GRANDE DO SUL   (Brazil)

^b HOSPITAL DE CLÍNICAS DE PORTO ALEGRE   (Brazil)

^c Instituto Nacional de Genética Médica Populacional INAGEMP   (Brazil)

^d UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^e UNIVERSITY OF ZURICH   (Switzerland)

Author keywords

Hyperphenylalaninemia; Inborn errors of metabolism; Phenylalanine; Phenylketonuria; Tetrahydrobiopterin

Indexed keywords

PHENYLALANINE; TETRAHYDROBIOPTERIN;

ADOLESCENT; ADULT; AMINO ACID BLOOD LEVEL; ARTICLE; BLOOD SAMPLING; CHILD; CLINICAL ARTICLE; CLINICAL TRIAL; DIET RESTRICTION; DISEASE SEVERITY; EVALUATION; FEMALE; GENOTYPE; HUMAN; HYPERPHENYLALANINEMIA; LOADING TEST; MALE; PHENYLKETONURIA; PRIORITY JOURNAL; SCHOOL CHILD;

ADOLESCENT; ADULT; BIOPTERIN; BRAZIL; CHILD; DIAGNOSTIC TECHNIQUES AND PROCEDURES; DIET; FEEDING BEHAVIOR; FEMALE; GENOTYPE; HUMANS; MALE; PHENOTYPE; PHENYLALANINE; PHENYLKETONURIAS; YOUNG ADULT;

EID: 82755197165     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2011.09.019     Document Type: Article

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