Neurol. praxi. 2018;19(3):200-204 | DOI: 10.36290/neu.2018.037

Pompe disease

doc. MUDr. Martin Magner, Ph.D.1, MUDr. Jitka Jirečková2
1 Klinika dětského a dorostového lékařství, 1. LF UK a VFN v Praze
2 Klinika dětské neurologie LF MU a FN Brno

Pompe disease is a rare progressive autosomal recessive disorder caused by deficiency of lysosomal α-glucosidase (GAA;or acid maltase). The awareness of the disease among specialists has risen in the association with the arrival of therapy inthe form of applied recombinant enzyme. The aim of this review is to bring the reader some less known aspects of thisinteresting disease.

Keywords: Pompe disease, enzyme replacement therapy, lysosomal storage disorders

Received: May 21, 2018; Accepted: May 21, 2018; Published: July 1, 2018  Show citation

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Magner M, Jirečková J. Pompe disease. Neurol. praxi. 2018;19(3):200-204. doi: 10.36290/neu.2018.037.
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