Pompe disease clinical and laboratory diagnostic features

Pompe disease clinical and laboratory diagnostic features

Background. Analysis of Pompe disease (PD) clinical features in children in order to determine its main clinical and laboratory characteristics based on the results of laboratory and instrumental studies that allow to select such patients into the screening group for enzymatic diagnosis in dried blo...

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Bibliographic Details
Main Authors:	N.O. Pichkur, N.V. Olkhovych, T.P. Ivanova, N.V. Samonenko
Format:	Article
Language:	English
Published:	Publishing House Zaslavsky 2017-10-01
Series:	Zdorovʹe Rebenka
Subjects:	Pompe disease infantile form hypertrophic cardiomyopathy myopathy biochemical phenotype enzymatic diagnosis dried blood spot method enzyme replacement therapy
Online Access:	http://childshealth.zaslavsky.com.ua/article/view/116184

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