Incidence of BH4-responsiveness in phenylalanine-hydroxylase- deficient Italian patients

Molecular Genetics and Metabolism

Volumn 86, Issue SUPPL., 2005, Pages 67-74

  Fiori, Laura ^a   Fiege, Betina ^a   Riva, Enrica ^a   Giovannini, Marcello ^a  

^a UNIVERSITY OF MILAN   (Italy)

Author keywords

BH4 responsiveness; Cofactor; Genotype; Hyperphenylalaninemia; Phenylalanine hydroxylase deficiency; Phenylketonuria; Therapy

Indexed keywords

PHENYLALANINE; PHENYLALANINE 4 MONOOXYGENASE; PTERIN; TETRAHYDROBIOPTERIN; 5,6,7,8-TETRAHYDROBIOPTERIN; BIOPTERIN; DRUG DERIVATIVE;

AMINO ACID BLOOD LEVEL; ARTICLE; BIRTH; BLOOD ANALYSIS; BLOOD SAMPLING; COHORT ANALYSIS; CORRELATION ANALYSIS; DISEASE ASSOCIATION; DISEASE SEVERITY; DRUG EFFECT; DRUG RESPONSE; EVALUATION; GENE MUTATION; GENOTYPE; HUMAN; HYPERPHENYLALANINEMIA; INCIDENCE; ITALY; LOADING TEST; MAJOR CLINICAL STUDY; NEWBORN; PHENOTYPE; PHENYLKETONURIA; POPULATION RESEARCH; PRIORITY JOURNAL; SINGLE DRUG DOSE; TREATMENT OUTCOME; URINALYSIS; BLOOD; GENETICS; INFANT; MUTATION; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD;

BIOPTERIN; CHILD, PRESCHOOL; COHORT STUDIES; DNA MUTATIONAL ANALYSIS; GENOTYPE; HUMANS; INFANT; ITALY; MUTATION; PHENYLALANINE; PHENYLALANINE HYDROXYLASE; PHENYLKETONURIAS;

EID: 28844506266     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2005.06.017     Document Type: Article

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