Pathological characteristics of glycogen storage disease III in skeletal muscle

Journal of Clinical Neuroscience

Volumn 22, Issue 10, 2015, Pages 1674-1675

  Gershen, Leah D ^b   Prayson, Brigid E ^c   Prayson, Richard A ^a  

^a LERNER RESEARCH INSTITUTE   (United States)

^b CASE WESTERN RESERVE UNIVERSITY   (United States)

^c JOHN CARROLL UNIVERSITY   (United States)

Author keywords

Cori disease; Debrancher enzyme deficiency; Glycogenosis III; Skeletal muscle biopsy

Indexed keywords

ALANINE AMINOTRANSFERASE; ASPARTATE AMINOTRANSFERASE; CREATINE KINASE; FRUCTOSE BISPHOSPHATE ALDOLASE; GLYCOGEN DEBRANCHING ENZYME;

ADULT; ALANINE AMINOTRANSFERASE BLOOD LEVEL; ARM WEAKNESS; ARTICLE; ASPARTATE AMINOTRANSFERASE BLOOD LEVEL; CASE REPORT; CELL ULTRASTRUCTURE; CHRONIC INFLAMMATION; CLINICAL FEATURE; DIFFERENTIAL DIAGNOSIS; ELECTRON MICROSCOPY; ENDOMYSIUM; ENZYME ACTIVITY; ENZYME BLOOD LEVEL; FATIGUE; GLYCOGEN STORAGE DISEASE TYPE 3; HUMAN; HUMAN TISSUE; JOINT STIFFNESS; LIMB WEAKNESS; MALE; MUSCLE BIOPSY; MUSCLE CRAMP; MYOFIBROSIS; MYOPATHY; NEUROLOGIC EXAMINATION; PRIORITY JOURNAL; SKELETAL MUSCLE; URINALYSIS; VACUOLAR MYOPATHY; GLYCOGEN STORAGE DISEASE TYPE III; METABOLISM; PATHOLOGY;

ADULT; GLYCOGEN STORAGE DISEASE TYPE III; HUMANS; MALE; MUSCLE, SKELETAL;

EID: 84941169231     PISSN: 09675868     EISSN: 15322653     Source Type: Journal    
DOI: 10.1016/j.jocn.2015.03.041     Document Type: Article

References (2)

1. P.S. Kishnani, S.L. Austin, P. Arn, and et al. Glycogen storage disease type III diagnosis and management guidelines Genet Med 12 2010 446 463
2. T. Momoi, H. Sano, C. Yamanaka, and et al. Glycogen storage disease type III with muscle involvement: reappraisal of phenotypic variability and prognosis Am J Med Genet 42 1992 696 699