Glycogen storage disease type II
Enlarge text Shrink text-
Topic
|
System number
987007556595605171
-
Save successfulThe item can be found in your Personal ZoneשגיאהLog in to your account to save
Information for Authority record
Name (Hebrew)
מחלת אגירת גליקוגן מסוג II
Name (Latin)
Glycogen storage disease type II
Name (Arabic)
داء اختزان الغلايكوجين النمط الثاني
Other forms of name
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
See Also From tracing topical name
Glycogen storage disease
Lysosomal storage diseases
Musculoskeletal system Diseases
MARC
MARC
Other Identifiers
Wikidata:
Q1365789
Library of congress:
sh2006004143
Sources of Information
- Work cat.: 2006048286: The cure, 2006:CIP galley (Pompe disease; inherited genetic disorder caused by a defective or missing enzyme)
- 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)
- Dorland's(Pompe's disease; glycogen storage disease (type II))
- 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)
- 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)