Screening of tetrahydrobiopterin deficiency among hyperphenylalaninemic patients;Repérage des hyperphénylalaninémies par déficit en tétrahydrobioptérine

Annales de Biologie Clinique

Volumn 60, Issue 2, 2002, Pages 165-171

  Dhondt, J L ^a   Hayte, J M ^a  

^a Centre Hospitalier Saint Philibert GHICL   (France)

Author keywords

Cofactor deficiency; Hyperphenylalaninemia; Tetrahydrobiopterin

Indexed keywords

5,6,7,8-TETRAHYDROBIOPTERIN; 6 PYRUVOYLTETRAHYDROPTERIN SYNTHASE; 6-PYRUVOYLTETRAHYDROPTERIN SYNTHASE; BIOPTERIN; DIHYDROPTERIDINE REDUCTASE; GUANOSINE TRIPHOSPHATE CYCLOHYDROLASE I; HYDRO LYASES; HYDROLYASE; LYASE; PHENYLALANINE; PHOSPHORUS OXYGEN LYASES; PTERIDINE; PTERIDINE DERIVATIVE; PTERIN 4A CARBINOLAMINE DEHYDRATASE; PTERIN-4A-CARBINOLAMINE DEHYDRATASE; TETRAHYDROBIOPTERIN; DRUG DERIVATIVE;

ARTICLE; BLOOD; BLOOD LEVEL; DIFFERENTIAL DIAGNOSIS; DISEASE ASSOCIATION; ENZYME ASSAY; ENZYME DEFICIENCY; ENZYMOLOGY; FEMALE; HUMAN; HYPERPHENYLALANINEMIA; INFANT; LIVER; MAJOR CLINICAL STUDY; MALE; METABOLISM; METHODOLOGY; NEWBORN; NEWBORN SCREENING; NUTRITIONAL DEFICIENCY; PHENYLKETONURIA; URINALYSIS; URINE;

BIOPTERIN; DIAGNOSIS, DIFFERENTIAL; DIHYDROPTERIDINE REDUCTASE; GTP CYCLOHYDROLASE; HUMANS; HYDRO-LYASES; INFANT, NEWBORN; LIVER; NEONATAL SCREENING; PHENYLALANINE; PHENYLKETONURIAS; PHOSPHORUS-OXYGEN LYASES; PTERIDINES;

EID: 0036513183     PISSN: 00033898     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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