Phenotypic expression of late-onset glycogen storage disease type II: Identification of asymptomatic adults through family studies and review of reported families

Neuromuscular Disorders

Volumn 10, Issue 7, 2000, Pages 467-471

  Ausems, Margreet G E M ^a   Ten Berg, Klara ^a   Beemer, Frits A ^a   Wokke, John H J ^a  

^a UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

Author keywords

Family studies; Glycogenosis; Intrafamilial variability

Indexed keywords

ALPHA GLUCOSIDASE; LYSOSOME ENZYME;

ARTICLE; DIAGNOSTIC VALUE; FAMILY HISTORY; FAMILY STUDY; GENETIC COUNSELING; GENOTYPE; GLYCOGEN STORAGE DISEASE TYPE 2; HUMAN; HUMAN CELL; HUMAN EXPERIMENT; LEUKOCYTE; MAJOR CLINICAL STUDY; MUSCLE WEAKNESS; ONSET AGE; PHENOTYPE; PRIORITY JOURNAL; PROGNOSIS; SIBLING;

ADOLESCENT; ADULT; AGE OF ONSET; FAMILY HEALTH; FEMALE; GLYCOGEN STORAGE DISEASE TYPE II; HUMANS; MALE; MIDDLE AGED; PHENOTYPE; VARIATION (GENETICS);

EID: 0034308264     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0960-8966(00)00123-1     Document Type: Article

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