Now showing items 1-2 of 2

    • Skeletal muscle pathology of infantile Pompe disease during long-term enzyme replacement therapy. 

      Prater, Sean N; Patel, Trusha T; Buckley, Anne F; Mandel, Hanna; Vlodavski, Eugene; Banugaria, Suhrad G; Feeney, Erin J; ... (9 authors) (Orphanet J Rare Dis, 2013-06-20)
      BACKGROUND: Pompe disease is an autosomal recessive metabolic neuromuscular disorder caused by a deficiency of the lysosomal enzyme acid alpha-glucosidase (GAA). It has long been believed that the underlying pathology leading ...
    • Therapeutic Benefit of Autophagy Modulation in Pompe Disease. 

      Lim, Jeong-A; Sun, Baodong; Puertollano, Rosa; Raben, Nina (Molecular therapy : the journal of the American Society of Gene Therapy, 2018-05-03)
      The complexity of the pathogenic cascade in lysosomal storage disorders suggests that combination therapy will be needed to target various aspects of pathogenesis. The standard of care for Pompe disease (glycogen storage ...