Glycogen storage disease type II (GSDII) is a recessively inherited disorder due to the deficiency of acid alpha-glucosidase (GAA) that results in impaired glycogen degradation and its accumulation in the lysosomes. We report here the complete molecular analysis of the GAA gene performed on 40 Itali
Association of Adult-Onset Glycogenosis Type II and a Mutation in the LMNA Gene in Two Patients: Different Clinical and Histological Phenotypes
✍ Scribed by Françoise Chapon; Pascale Richard; Y. Reznik; Stéphane Allouche; François Leroy; Gisèle Bonne; Marie-Odile Rolland
- Book ID
- 113544413
- Publisher
- Elsevier Science
- Year
- 2011
- Tongue
- English
- Weight
- 80 KB
- Volume
- 33
- Category
- Article
- ISSN
- 0149-2918
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