p.R220L Is a Likely Pathogenic Novel GLA Gene Mutation Responsible for Fabry Disease
Fabry disease is a progressive and rare storage disease that occurs due to low or complete deficiency of lysosomal alpha galactosidase-A (α-GLA) enzyme activity. Low alpha galactosidase-A enzyme activity causes progressive accumulation of globotriaosylceramide in various tissues and organs including...
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Published in | Anatolian journal of cardiology Vol. 26; no. 5; pp. 411 - 413 |
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Main Authors | , , , , , |
Format | Journal Article |
Language | English |
Published |
Turkey
Turkish Society of Cardiology
01.05.2022
KARE Publishing |
Subjects | |
Online Access | Get full text |
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