Glycogen storage disease type II
URI(s)
Variants
Acid maltase deficiency disease
Generalized glycogenosis
Glycogenosis 2
GSDII (Glycogen storage disease type II)
Lysosomal alpha 1,4-glucosidase deficiency disease
Pompe disease
Pompe's disease
Broader Terms
Closely Matching Concepts from Other Schemes
Sources
found: Work cat.: 2006048286: The cure, 2006:CIP galley (Pompe disease; inherited genetic disorder caused by a defective or missing enzyme)
found: MESH(Glycogen Storage Disease Type II x Acid Maltase Deficiency Disease x Generalized Glycogenesis x Glycogenosis 2 x Lysosomal alpha 1,4-Glucosidase Deficiency Disease x Pompe Disease x Pompe's Disease)
found: Dorland's(Pompe's disease; glycogen storage disease (type II))
found: eMedicine web site Wayne E. Anderson, author, June 5, 2006("A glycogen storage disease (GSD) is the result of an enzyme defect." "Most patients experience muscle symptoms, such as weakness and cramps, although certain GSDs manifest as specific syndromes, such as hypoglycemic seizures or cardiomegaly." Pompe disease causes significant muscle weakness)
found: eMedicine web site Jennifer Ibrahim, author , June 5, 2006(Glycogen-storage disease type II (GSDII); an autosomal recessive disorder that results from the deficiency of acid alpha-glucosidase, a lysosomal hydrolase; 3 major forms of the disorder exist: infantile, juvenile, and adult-onset)
LC Classification
Instance Of
Scheme Membership(s)
Collection Membership(s)
Change Notes
2006-06-05: new
2006-07-21: revised
Alternate Formats
