We characterized 29 unrelated patients presenting with the severe form of Pompe disease (Glycogen Storage Disease Type II, acid maltase deficiency) and identified 26 pathogenic mutations divided over 28 different genotypes. Among the eight new mutations, five were exonic point mutations (c.572A>G, c
Pompe disease in a Brazilian series: clinical and molecular analyses with identification of nine new mutations
✍ Scribed by Sueli M. Oba-Shinjo; Roseli da Silva; Fernanda G. Andrade; Rachel E. Palmer; Robert J. Pomponio; Kristina M. Ciociola; Mary S. Carvalho; Paulo S. Gutierrez; Gilda Porta; Carlo D. Marrone; Verônica Munoz; Anderson K. Grzesiuk; Juan C. Llerena; Célia R. Berditchevsky; Claudia Sobreira; Dafne Horovitz; Thamine P. Hatem; Elizabeth R. C. Frota; Rogerio Pecchini; João Aris Kouyoumdjian; Lineu Werneck; Veronica M. Amado; José S. Camelo; Robert J. Mattaliano; Suely K. N. Marie
- Publisher
- Springer
- Year
- 2009
- Tongue
- English
- Weight
- 255 KB
- Volume
- 256
- Category
- Article
- ISSN
- 0340-5354
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