Browsing by Subject "Pompe disease"

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    • Pompe disease: Clinical perspectives 
      Cabello Andrade, Juan Francisco; Marsden, Deborah (Dove Medical, 2017)
      Pompe disease (acid alpha-glucosidase deficiency, OMIM 232300) is a rare lysosomal storage disorder due to autosomal recessive mutations in the GAA gene. It has also been called acid maltase deficiency and glycogen storage ...
    • The Latin American experience with a next generation sequencing genetic panel for recessive limb-girdle ... 
      Bevilacqua, Jorge; Guecaimburu Ehuletche, María del Rosario; Perna, Abayuba; Dubrovsky, Alberto; Franca, Marcondes C.; Vargas, Steven; Hegde, Madhuri; Claeys, Kristl G.; Straub, Volker; Daba, Nadia; Faria, Roberta; Periquet, Magali; Sparks, Susan; Thibault, Nathan; Araujo, Roberto (BMC, 2020)
      Background Limb-girdle muscular dystrophy (LGMD) is a group of neuromuscular disorders of heterogeneous genetic etiology with more than 30 directly related genes. LGMD is characterized by progressive muscle weakness involving ...