Genotype/phenotype correlation in glycogen storage disease type 1b: A multicentre study and review of the literature

European Journal of Pediatrics

Volumn 164, Issue 8, 2005, Pages 501-508

  Melis, Daniela ^a   Fulceri, Rossella ^b   Parenti, Giancarlo ^a   Marcolongo, Paola ^b   Gatti, Rosanna ^c   Parini, Rossella ^d   Riva, Enrica ^e   Della Casa, Roberto ^a   Zammarchi, Enrico ^f   Andria, Generoso ^a   Benedetti, Angelo ^b  

^a UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^b UNIVERSITY OF SIENA   (Italy)

^c G GASLINI INSTITUTE   (Italy)

^d SAN GERARDO HOSPITAL   (Italy)

^e SAN PAOLO HOSPITAL   (Italy)

^f UNIVERSITY OF FLORENCE   (Italy)

Author keywords

Glycogen storage disease type 1b; Mutation analysis; Neutropenia; Recurrent infections; Systemic complications

Indexed keywords

ADOLESCENT; ADULT; AGE DISTRIBUTION; ARTICLE; CHILD; CLINICAL FEATURE; CONTROLLED STUDY; CORRELATION ANALYSIS; DISEASE ASSOCIATION; DISEASE SEVERITY; FEMALE; GENE IDENTIFICATION; GENE MUTATION; GENOTYPE; GLYCOGEN STORAGE DISEASE; HOSPITAL ADMISSION; HUMAN; KIDNEY DISEASE; LIVER ADENOMA; MAJOR CLINICAL STUDY; MALE; MOLECULAR DYNAMICS; NEUTROPENIA; PHENOTYPE; PRIORITY JOURNAL; SEX RATIO;

ADOLESCENT; ADULT; ANTIPORTERS; CHILD; CHILD, PRESCHOOL; COHORT STUDIES; DNA MUTATIONAL ANALYSIS; FEMALE; GENOTYPE; GLYCOGEN STORAGE DISEASE TYPE I; HUMANS; ITALY; MALE; MONOSACCHARIDE TRANSPORT PROTEINS; MUTATION; NEUTROPENIA; PHENOTYPE;

EID: 23044433600     PISSN: 03406199     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00431-005-1657-4     Document Type: Article

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