Late-onset Pompe disease with phenotype of the limb-girdle muscular dystrophy

Pompe disease, also known as type II glycogenosis, is a rare autosomal recessive disease. Two main types include early-onset Pompe disease – severe, rapidly progressive multisystem deficency, manifestating on the first year of life, and late-onset Pompe disease (LOPD), with the age of onset ranging...

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Detalhes bibliográficos
Main Authors: S. A. Kurbatov, S. S. Nikitin, E. Yu. Zakharova
Formato: Artigo
Idioma:Russo
Publicado em: ABV-press 2015-09-01
Colecção:Nervno-Myšečnye Bolezni
Assuntos:
pompe disease
late-onset pompe disease
glycogenosis type ii
storage disease
acid-α-glucosidase
gaa gene
enzyme replacement therapy
myopathy
creatine kinase
Acesso em linha:https://nmb.abvpress.ru/jour/article/view/125
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