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pro vyhledávání: '"Adriana Grijalva-Pérez"'
Autor:
Victor Acuña-Alonzo, Alessandra Carnevale, Antonio Bravo-Oro, Arturo Rojo-Domínguez, Sandra Rosas-Madrigal, Teresa Villarreal-Molina, Carmen Esmer, Rafael Velázquez-Cruz, Sandra Romero-Hidalgo, Adriana Grijalva-Pérez
Publikováno v:
Meta Gene. 15:60-64
Pompe Disease (PD) is a rare autosomal recessive disorder caused by lysosomal enzyme acid-alpha-glucosidase (GAA) deficiency, which leads to lysosomal glycogen accumulation, swelling, cellular damage and dysfunction of cardiac, respiratory and muscul