Evaluation of neonatal BH4 loading test in neonates screened for hyperphenylalaninemia

Early Human Development

Volumn 84, Issue 9, 2008, Pages 561-567

  Feillet, François ^a,b   Chery, Céline ^a,b   Namour, Fares ^a,b   Kimmoun, Antoine ^a   Favre, Elisabeth ^a   Lorentz, Elisabeth ^a   Battaglia Hsu, Shyue Fang ^b   Guéant, Jean Louis ^a,b  

^a UNIVERSITY HOSPITAL OF NANCY   (France)

^b INSERM   (France)

Author keywords

Hyperphenylalaninemia; Neonatal screening; Phenylalanine hydroxylase; Phenylketonuria; Tetrahydrobiopterin

Indexed keywords

PHENYLALANINE 4 MONOOXYGENASE; TETRAHYDROBIOPTERIN;

ARTICLE; BIRTH WEIGHT; CLINICAL ARTICLE; CONTROLLED STUDY; GENE MUTATION; HUMAN; HYPERPHENYLALANINEMIA; LOADING DRUG DOSE; LOADING TEST; MEDICAL ASSESSMENT; NEWBORN; NEWBORN SCREENING; PHENYLKETONURIA; SINGLE DRUG DOSE;

BIOPTERIN; GENOTYPE; HUMANS; INFANT, NEWBORN; MASS SCREENING; PHENYLALANINE; PHENYLALANINE HYDROXYLASE; PHENYLKETONURIAS;

EID: 50949097905     PISSN: 03783782     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.earlhumdev.2008.01.003     Document Type: Article

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