Phenylalanine hydroxylase genotypes, predicted residual enzyme activity and phenotypic parameters of diagnosis and treatment of phenylketonuria

European Journal of Pediatrics, Supplement

Volumn 155, Issue 1, 1996, Pages

  Konecki, D S ^a  

^a MARSHFIELD CLINIC   (United States)

Author keywords

Genotype; IQ; Phenylketonuria; Treatment

Indexed keywords

PHENYLALANINE; PHENYLALANINE 4 MONOOXYGENASE;

AMINO ACID BLOOD LEVEL; CHILD; CONFERENCE PAPER; DIET THERAPY; ENZYME ACTIVITY; GENOTYPE; HUMAN; HUMAN CELL; HYPERPHENYLALANINEMIA; INTELLIGENCE QUOTIENT; MAJOR CLINICAL STUDY; PATIENT COMPLIANCE; PHENOTYPE; PHENYLKETONURIA; PRIORITY JOURNAL;

ALLELES; ENZYME ACTIVATION; GENOTYPE; HUMANS; INFANT; INFANT, NEWBORN; PHENYLALANINE HYDROXYLASE; PHENYLKETONURIAS;

EID: 0029829975     PISSN: 09439676     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Conference Paper

References (1)

1. Eisensmith RC, Woo SLC (1992) Molecular basis of phenylketonuria and related hyperphenylalaninemias: mutations and polymorphisms in the human phenylalanine hydroxylase gene. Hum Mutation 1 : 13-23