Molecular epidemiology and BH4-responsiveness in patients with phenylalanine hydroxylase deficiency from Galicia region of Spain

Gene

Volumn 521, Issue 1, 2013, Pages 100-104

  Couce, M L ^a   Boveda M D ^a   Fernandez Marmiesse A ^a   Miras A ^a   Perez B ^b   Desviat, L R ^b   Fraga, J M ^a  

^a Pediatric Nutrition Research Group Health Research Institute of Santiago de Compostela   (Spain)

^b CENTRO DE BIOLOGÍA MOLECULAR SEVERO OCHOA   (Spain)

Author keywords

BH4 responsiveness; Hyperphenylalaninemia molecular epidemiology; PAH mutation; Phenylketonuria

Indexed keywords

TETRAHYDROBIOPTERIN;

ADOLESCENT; ADULT; ALLELE; ARTICLE; CHILD; FEMALE; GENOTYPE; GENOTYPE PHENOTYPE CORRELATION; HUMAN; HYPERPHENYLALANINEMIA; INFANT; LOADING TEST; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MOLECULAR EPIDEMIOLOGY; NEWBORN; NUCLEOTIDE SEQUENCE; PHENOTYPE; PHENYLKETONURIA; PREDICTION; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SPAIN; TREATMENT RESPONSE;

ADOLESCENT; ADULT; BIOPTERIN; CHILD; CHILD, PRESCHOOL; FEMALE; GENE FREQUENCY; GENETIC ASSOCIATION STUDIES; HUMANS; MALE; MOLECULAR EPIDEMIOLOGY; MUTATION; PEDIGREE; PHENYLALANINE HYDROXYLASE; PHENYLKETONURIAS; SPAIN; YOUNG ADULT;

EID: 84876738455     PISSN: 03781119     EISSN: 18790038     Source Type: Journal    
DOI: 10.1016/j.gene.2013.03.004     Document Type: Article

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