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Autor:
Barbara K. Smith, Barry J. Byrne, Saleem Islam, A. Daniel Martin, Shelley Collins, Jordan Marcus, Lee Ann Lawson, Nadeem I. Shafi, Manuela Corti, Valerie Vernot
Publikováno v:
Experimental Neurology. 287:216-224
Pompe disease is an inherited disorder due to a mutation in the gene that encodes acid α-glucosidase (GAA). Children with infantile-onset Pompe disease develop progressive hypotonic weakness and cardiopulmonary insufficiency that may eventually requ