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
✦ LIBER ✦
Splicing mutations in glycogen-storage disease type II: evaluation of the full spectrum of mutations and their relation to patients’ phenotypes
✍ Scribed by Zampieri, Stefania; Buratti, Emanuele; Dominissini, Silvia; Montalvo, Anna Lisa; Pittis, Maria Gabriela; Bembi, Bruno; Dardis, Andrea
- Book ID
- 109849293
- Publisher
- Nature Publishing Group
- Year
- 2010
- Tongue
- English
- Weight
- 571 KB
- Volume
- 19
- Category
- Article
- ISSN
- 1018-4813
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