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Autor:
Angie H. Fares, Ankit K. Desai, Laura E. Case, Cassie Sharon, Amy Klinepeter, Amelia Kirby, Matthew T. Lisi, Rebecca L. Koch, Priya S. Kishnani
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 41, Iss , Pp 101141- (2024)
Infantile-onset Pompe disease (IOPD) is caused by a deficiency in the enzyme acid alpha-glucosidase (GAA). It is characterized by severe and progressive hypertrophic cardiomyopathy and muscle weakness with death in the first 2 years of life if left u
Externí odkaz:
https://doaj.org/article/6ea6d9796f1448e0a4eef059199db424