Glycogen storage disease type IV: Novel mutations and molecular characterization of a heterogeneous disorder

Journal of Inherited Metabolic Disease

Volumn 33, Issue SUPPL. 3, 2010, Pages

  Li, Sing Chung ^a,b   Chen, Chiao Ming ^a,b   Goldstein, Jennifer L ^g   Wu, Jer Yuarn ^c   Lemyre, Emmanuelle ^d   Burrow, Thomas Andrew ^e   Kang, Peter B ^f   Chen, Yuan Tsong ^c   Bali, Deeksha S ^g  

^a TAIPEI MEDICAL UNIVERSITY   (Taiwan)

^b SHIH CHIEN UNIVERSITY   (Taiwan)

^c INSTITUTE OF BIOMEDICAL SCIENCES   (Taiwan)

^d UNIVERSITY OF MONTREAL   (Canada)

^e CINCINNATI CHILDREN'S HOSPITAL MEDICAL CENTER   (United States)

^f BOSTON CHILDREN S HOSPITAL   (United States)

^g DUKE UNIVERSITY MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GBE1 PROTEIN, HUMAN; GLYCOGEN DEBRANCHING ENZYME;

AMINO ACID SEQUENCE; ARTICLE; CASE REPORT; ENZYMOLOGY; FEMALE; GENE DELETION; GENETIC PREDISPOSITION; GENETIC SCREENING; GENETICS; GLYCOGEN STORAGE DISEASE TYPE 4; HUMAN; INFANT; MALE; METABOLISM; METHODOLOGY; MISSENSE MUTATION; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; PEDIGREE; PHENOTYPE; PROGNOSIS; SEVERITY OF ILLNESS INDEX; COMPLICATION; GLYCOGEN STORAGE DISEASE TYPE IV; PROCEDURES;

AMINO ACID SEQUENCE; BASE SEQUENCE; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; GLYCOGEN DEBRANCHING ENZYME SYSTEM; GLYCOGEN STORAGE DISEASE TYPE IV; HUMANS; INFANT; MALE; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PEDIGREE; PHENOTYPE; PROGNOSIS; SEQUENCE DELETION; SEVERITY OF ILLNESS INDEX;

EID: 77958157941     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-009-9026-5     Document Type: Article

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