Infantile-onset Pompe disease (the first case diagnosed in Voronezh)

Infantile-onset Pompe disease (the first case diagnosed in Voronezh)

Pompe disease (PD), or glycogen storage disease type II, is a rare autosomal recessive lysosomal disease caused by glycogen storage in the myocardium, skeletal muscles, and liver. PD, as an orphan disease with a very low prevalence rate, shows a marked clinical polymorphism, making its early diagnos...

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Bibliographic Details
Main Authors: V. P. Fedotov, I. S. Kleimenova, T. V. Fedotova, D. S. Stepanov, E. A. Proskurina, E. Yu. Zakharova
Format: Article
Language:Russian
Published: ABV-press 2015-02-01
Series:Нервно-мышечные болезни
Subjects:
pompe disease
glycogen storage disease type ii
infantile form
α-glucosidase
enzymatic diagnosis
gaa gene mutation
hypertrophic cardiomyopathy
macroglossia
Online Access:https://nmb.abvpress.ru/jour/article/view/58
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