Biochemical phenotype and its relationship with genotype in hyperphenylalaninemia heterozygotes

Molecular Genetics and Metabolism

Volumn 67, Issue 2, 1999, Pages 156-161

  Mallolas, Judith ^a   Milà, Montserrat ^a,b   Lambruschini, Nilo ^a   Cambra, Francisco José ^a   Campistol, Jaume ^a   Vilaseca, Maantònia ^a  

^a HOSPITAL CLÍNIC   (Spain)

^b INSTITUT D INVESTIGACIONS BIOMÈDIQUES AUGUST PI I SUNYER IDIBAPS   (Spain)

Author keywords

Heterozygote; Hyperphenylalaninemia; Phenylalanine; Phenylketonuria; Tyrosine

Indexed keywords

PHENYLALANINE; PHENYLALANINE 4 MONOOXYGENASE; TYROSINE;

AMINO ACID METABOLISM; ARTICLE; ENZYME ACTIVITY; GENE MUTATION; GENOTYPE; HETEROZYGOTE; HUMAN; HYPERPHENYLALANINEMIA; MAJOR CLINICAL STUDY; PARENT; PHENOTYPE; PHENYLKETONURIA; PRIORITY JOURNAL;

EID: 0032775654     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1006/mgme.1999.2862     Document Type: Article

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