𝔖 Bobbio Scriptorium
✦   LIBER   ✦

The African origin of the common mutation in African American patients with glycogen-storage disease type II [3]

✍ Scribed by Becker, J. A. (author);Vlach, J. (author);Raben, N. (author);Nagaraju, K. (author);Adams, E. M. (author);Hermans, M. M. (author);Reuser, A. J.J. (author);Brooks, S. S. (author);Tifft, C. J. (author);Hirschhorn, R. (author);Huie, M. L. (author);Nicolino, M. (author);Plotz, P. H. (author)


Book ID
117852351
Publisher
Cell Press
Year
1998
Tongue
English
Weight
144 KB
Volume
62
Category
Article
ISSN
0002-9297

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


Novel mutations in African American pati
✍ Nina Raben; Eunice Lee; Laura Lee; Rochelle Hirschhorn; Paul H. Plotz πŸ“‚ Article πŸ“… 1999 πŸ› John Wiley and Sons 🌐 English βš– 74 KB πŸ‘ 1 views

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

Mutation profile of the GAA gene in 40 I
✍ A.L.E. Montalvo; B. Bembi; M. Donnarumma; M. Filocamo; G. Parenti; M. Rossi; L. πŸ“‚ Article πŸ“… 2006 πŸ› John Wiley and Sons 🌐 English βš– 255 KB πŸ‘ 1 views

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