Novel AGL mutation in a Turkish patient with glycogen storage disease type IIIa

Pediatrics International

Volumn 52, Issue 1, 2010, Pages 145-147

  Aoyama, Yoshiko ^a   Endo, Yoriko ^a   Ebara, Tetsu ^a   Murase, Toshio ^a   Shin, Yoon S ^b   Podskarbi, Teodor ^b   Ozer, Isil ^c   Demirkol, Mübeccel ^c   Gökçay, Gülden ^c   Okubo, Minoru ^a  

^a TORANOMON HOSPITAL   (Japan)

^b Molecular Genetics and Metabolism Laboratory   (Germany)

^c ISTANBUL UNIVERSITY   (Turkey)

Author keywords

AGL; Deletion; Glycogen debranching enzyme; Glycogen storage disease type IIIa; Turkey

Indexed keywords

AMYLO 1,6 GLUCOSIDASE; GLYCOGEN DEBRANCHING ENZYME;

ARTICLE; CASE REPORT; CHILD; CLINICAL ASSESSMENT; CLINICAL FEATURE; DIETARY INTAKE; ENZYME ACTIVITY; ENZYME DEFICIENCY; GASTROSTOMY; GENE DELETION; GENE MUTATION; GLYCOGEN METABOLISM; GLYCOGEN STORAGE DISEASE TYPE 1; GLYCOGEN STORAGE DISEASE TYPE 3; HUMAN; LABORATORY DIAGNOSIS; MALE; PRIORITY JOURNAL; SCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM; TURKEY (REPUBLIC);

CHILD; CHROMOSOME ABERRATIONS; CHROMOSOME DELETION; CONSANGUINITY; DIAGNOSIS, DIFFERENTIAL; DIETARY CARBOHYDRATES; DIETARY PROTEINS; DNA MUTATIONAL ANALYSIS; EXONS; GENES, RECESSIVE; GLYCOGEN DEBRANCHING ENZYME SYSTEM; GLYCOGEN STORAGE DISEASE TYPE III; HAPLOTYPES; HOMOZYGOTE; HUMANS; MALE; POLYMORPHISM, GENETIC; SEQUENCE ANALYSIS, DNA;

EID: 76249084619     PISSN: 13288067     EISSN: 1442200X     Source Type: Journal    
DOI: 10.1111/j.1442-200X.2009.02943.x     Document Type: Article

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