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Autor:
M.J. Guimarães, J.C. Winck, B. Conde, A. Mineiro, M. Raposo, J. Moita, A. Marinho, J.M. Silva, N. Pires, S. André, C. Loureiro
Publikováno v:
Revista Portuguesa de Pneumologia (English Edition), Vol 23, Iss 4, Pp 208-215 (2017)
Pompe disease is a rare autosomal recessive neuromuscular disorder caused by acid α-glucosidase enzyme (GAA) deficiency and divided into two distinct variants, infantile- and late-onset. The late-onset variant is characterized by a spectrum of phe
Externí odkaz:
https://doaj.org/article/287888f54cae433084b259037edeac94
