Pompe disease (glycogen storage disease type II) in Argentineans: Clinical manifestations and identification of 9 novel mutations
β Scribed by Rachel E. Palmer; Hernan M. Amartino; Gabriela Niizawa; Mariana Blanco; Robert J. Pomponio; Nestor A. Chamoles
- Book ID
- 116792757
- Publisher
- Elsevier Science
- Year
- 2007
- Tongue
- English
- Weight
- 98 KB
- Volume
- 17
- Category
- Article
- ISSN
- 0960-8966
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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
Glycogen Storage Disease type II (GSDII) is caused by the deficiency of lysosomal a-glucosidase (acid maltase). This paper reports on the characterization of the molecular defects in 6 infantile patients from Turkish ancestry. Five of the 6 patients had reduced levels of the lysosomal a-glucosidase