Screening for tetrahydrobiopterin deficiencies using dried blood spots on filter paper

Molecular Genetics and Metabolism

Volumn 86, Issue SUPPL., 2005, Pages 96-103

  Zurflüh, Marcel R ^a   Giovannini, Marcello ^b   Fiori, Laura ^b   Fiege, Betina ^b   Gokdemir, Yasemin ^c   Baykal, Tolunay ^c   Kierat, Lucja ^a   Gärtner, Konrad H ^a   Thöny, Beat ^a   Blau, Nenad ^a  

^a UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^b UNIVERSITY OF MILAN   (Italy)

^c ISTANBUL UNIVERSITY   (Turkey)

Author keywords

Phenylketonuria; PKU; Tetrahydrobiopterin

Indexed keywords

6 PYRUVOYLTETRAHYDROPTERIN SYNTHASE; BIOPTERIN; DIHYDROPTERIDINE REDUCTASE; GUANOSINE TRIPHOSPHATE CYCLOHYDROLASE I; ISOXANTHOPTERIN; NEOPTERIN; PTERIN; TETRAHYDROBIOPTERIN;

ADOLESCENT; ANALYTIC METHOD; ARTICLE; BLOOD; BLOOD SAMPLING; CHILD; CONTROLLED STUDY; ENZYME DEFICIENCY; FILTER; HUMAN; HUMAN TISSUE; HYPERPHENYLALANINEMIA; INFANT; LOADING TEST; MEASUREMENT; MONITORING; NEWBORN; PAPER; PRIORITY JOURNAL; REFERENCE VALUE; SCREENING; URINALYSIS;

EID: 28844443876     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2005.09.011     Document Type: Article

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