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PRENATAL DIAGNOSIS OF TYPE-II GLYCOGENOSIS

✍ Scribed by Hug, George; Schubert, WilliamK.; Soukup, Shirley


Book ID
122810769
Publisher
The Lancet
Year
1970
Tongue
English
Weight
480 KB
Volume
295
Category
Article
ISSN
0140-6736

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Glycogen storage disease type II (GSD II/glycogenosis type II/Pompe's disease/acid maltase deficiency) is caused by the deficiency of lysosomal alpha-glucosidase resulting in lysosomal accumulation of glycogen. The disease is inherited as an autosomal recessive trait and is clinically heterogeneous.