The spectrum of phenylalanine variations under tetrahydrobiopterin load in subjects affected by phenylalanine hydroxylase deficiency

Journal of Inherited Metabolic Disease

Volumn 29, Issue 1, 2006, Pages 38-46

  Leuzzi, Vicenzo ^a   Carducci, C ^a,a   Chiarotti, F ^b   Artiola, C ^a   Giovanniello, T ^a   Antonozzi, I ^a  

^a SAPIENZA UNIVERSITY OF ROME   (Italy)

^b National Health Institute   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

PHENYLALANINE; PHENYLALANINE 4 MONOOXYGENASE; TETRAHYDROBIOPTERIN;

ADULT; AMINO ACID BLOOD LEVEL; ARTICLE; BIOCHEMISTRY; BLOOD SAMPLING; CHILD; CLINICAL ARTICLE; CLINICAL TRIAL; CORRELATION ANALYSIS; DIAGNOSTIC VALUE; DIETARY INTAKE; DISEASE CLASSIFICATION; DISEASE SEVERITY; FEMALE; GENE MUTATION; GENETIC VARIABILITY; GENOTYPE; HUMAN; HYPERPHENYLALANINEMIA; INFANT; LOADING TEST; MALE; PHENOTYPE; PHENYLKETONURIA;

ADOLESCENT; ADULT; AMINO ACID METABOLISM, INBORN ERRORS; BIOPTERIN; CHILD; CHILD, PRESCHOOL; FEMALE; HUMANS; INFANT; MALE; PHENYLALANINE; PHENYLALANINE HYDROXYLASE; PHENYLKETONURIAS; VARIATION (GENETICS);

EID: 33645686672     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-006-0096-3     Document Type: Article

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