Extended tetrahydrobiopterin loading test in the diagnosis of cofactor-responsive phenylketonuria: A pilot study

Molecular Genetics and Metabolism

Volumn 86, Issue SUPPL., 2005, Pages 91-95

  Fiege, Betina ^a   Bonafé, Luisa ^b   Ballhausen, Diana ^b,c   Baumgartner, Matthias ^c   Thöny, Beat ^c   Meili, David ^c   Fiori, Laura ^a   Giovannini, Marcello ^a   Blau, Nenad ^c  

^a UNIVERSITY OF MILAN   (Italy)

^b LAUSANNE UNIVERSITY HOSPITAL   (Switzerland)

^c UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

Author keywords

Phenylketonuria; PKU; Tetrahydrobiopterin

Indexed keywords

PHENYLALANINE; TETRAHYDROBIOPTERIN;

ARTICLE; BLOOD SAMPLING; CALCULATION; CLINICAL ARTICLE; CLINICAL PROTOCOL; DISEASE SEVERITY; DRUG RESPONSE; HUMAN; HYPERPHENYLALANINEMIA; LOADING TEST; PHENOTYPE; PHENYLKETONURIA; PILOT STUDY; PRIORITY JOURNAL; STANDARD;

EID: 28844468010     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2005.09.014     Document Type: Article

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