Biochemical and molecular investigation of two Korean patients with glycogen storage disease type III

Clinical Chemistry and Laboratory Medicine

Volumn 46, Issue 9, 2008, Pages 1245-1249

  Oh, Sue Hyun ^a   Park, Hyung Doo ^a   Ki, Chang Seok ^a   Choe, Yon Ho ^a   Lee, Soo Youn ^a,b  

^a Sungkyunkwan University School of Medicine   (South Korea)

^b Samsung Medical Center   (South Korea)

Author keywords

AGL gene; Amylo 1,6 glucosidase,4 glucanotransferase (AGL); Glycogen storage disease type III; Korean; Mutation

Indexed keywords

ALANINE AMINOTRANSFERASE; AMINOTRANSFERASE; ASPARTIC ACID; CREATINE KINASE; LACTIC ACID; TRIACYLGLYCEROL; URIC ACID;

ARTICLE; CASE REPORT; CLINICAL FEATURE; FEMALE; GENE DELETION; GENE INSERTION; GLYCOGEN STORAGE DISEASE TYPE 3; HUMAN; HUMAN TISSUE; HYPERLIPIDEMIA; HYPOGLYCEMIA; INCIDENCE; INFANT; LABORATORY TEST; LIVER BIOPSY; MUTATIONAL ANALYSIS; MYOPATHY; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; SEQUENCE ANALYSIS;

FEMALE; GLYCOGEN; GLYCOGEN DEBRANCHING ENZYME SYSTEM; GLYCOGEN STORAGE DISEASE TYPE III; HUMANS; INFANT; KOREA; MUTATION;

EID: 51849156461     PISSN: 14346621     EISSN: 14374331     Source Type: Journal    
DOI: 10.1515/CCLM.2008.252     Document Type: Article

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