Divergent clinical outcomes of alpha-glucosidase enzyme replacement therapy in two siblings with infantile-onset Pompe disease treated in the symptomatic or pre-symptomatic state

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Matsuoka, Takashi; Miwa, Yoshiyuki; Tajika, Makiko; Sawada, Madoka; Fujimaki, Koichiro; Soga, Takashi; Tomita, Hideshi; Uemura, Shigeru; Nishino, Ichizo; Fukuda, Tokiko; Sugie, Hideo; Kosuga, Motomichi; Okuyama, Torayuki; Umeda, Yoh;
  • Publisher: Elsevier
  • Journal: Molecular Genetics and Metabolism Reports,volume 9,pages98-105 (issn: 2214-4269, eissn: 2214-4269)
  • Related identifiers: pmc: PMC5121151, doi: 10.1016/j.ymgmr.2016.11.001
  • Subject: Research Paper
    mesheuropmc: congenital, hereditary, and neonatal diseases and abnormalities | nutritional and metabolic diseases

Pompe disease is an autosomal recessive, lysosomal glycogen storage disease caused by acid α-glucosidase deficiency. Infantile-onset Pompe disease (IOPD) is the most severe form and is characterized by cardiomyopathy, respiratory distress, hepatomegaly, and skeletal mus... View more
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