The effect ofL-alanine therapy in a patient with adult onset glycogen storage disease type II
β Scribed by H. R. Mundy; J. E. Williams; A. J. Cousins; P. J. Lee
- Publisher
- Springer
- Year
- 2006
- Tongue
- English
- Weight
- 228 KB
- Volume
- 29
- Category
- Article
- ISSN
- 0141-8955
No coin nor oath required. For personal study only.
π SIMILAR VOLUMES
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
Germline mutations in the BRCAl gene confer susceptibility to hereditary breast and ovarian cancer (Easton et al., 1993; Ford et al., 1994). We report a new mutation in the BRCAl gene in an Austrian hereditary breast and ovarian cancer (HBOC) family with four breast cancer cases and one ovarian canc