Late-onset Pompe disease: first clinical description in Russia

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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Bibliographic Details
Main Authors:	S. S. Nikitin, M. O. Kovalchuk, E. U. Zaharova, V. V. Tsivileva
Format:	Article
Language:	Russian
Published:	ABV-press 2015-02-01
Series:	Нервно-мышечные болезни
Subjects:	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
Online Access:	https://nmb.abvpress.ru/jour/article/view/13
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