Lysosomal dysfunction in muscle with special reference to glycogen storage disease type II
β Scribed by Reinout P Hesselink; Anton J.M Wagenmakers; Maarten R Drost; Ger J Van der Vusse
- Book ID
- 117617981
- Publisher
- Elsevier Science
- Year
- 2003
- Tongue
- English
- Weight
- 263 KB
- Volume
- 1637
- Category
- Article
- ISSN
- 0925-4439
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The infantile form of GSD II (an inherited deficiency of the lysosomal enzyme, acid Ξ± Ξ±glucosidase, Pompe disease) is a severe and invariably fatal disease characterized by a rapidly progressive generalized hypotonia, hepatomegaly, and cardiomegaly. We have recently demonstrated that African America
The autosomal recessive disorder Glycogen Storage Disease Type II (GSDII) is caused by a deficiency in the lysosomal enzyme acid -glucosidase. We have optimised a procedure to use fluorescent DNA sequencing technology to screen for mutations within the -glucosidase gene from UK patients with GSDII.