Late-onset Pompe disease: first clinical description in Russia

Late-onset Pompe-disease (LOPD) is an adult form of the glycogenosis type II. The age of onset ranges from 1 till 75 y.o. and older. The diagnosis of LOPD is based on the presence of trunk and limb-girdle muscle weakness with hyperlordosis, respiratory failure, ocasionally accompanied by cardiomyopa...

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Detalhes bibliográficos
Main Authors: S. S. Nikitin, M. O. Kovalchuk, E. U. Zaharova, V. V. Tsivileva
Formato: Artigo
Idioma:Russo
Publicado em: ABV-press 2015-02-01
Colecção:Nervno-Myšečnye Bolezni
Assuntos:
storage disease
glycogenosis type ii
autosomal-recessive inheritance
pompe disease
late-onset pompe disease
infantile form
autophagy
limb-girdle myopathy
hyperlordosis
myotonic discharges
ck
acid α-glucosidase
lysosome
dry blood spot test
Acesso em linha:https://nmb.abvpress.ru/jour/article/view/13
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