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A Retrospective Survey Studying the Impact of Fabry Disease on Pregnancy

Fabry disease (FD) is a lysosomal storage disorder resulting from a deficiency of lysosomal enzyme α-galactosidase A (α-gal A). Reduced or missing α-gal A enzyme results in the storage of globotriaosylceramide (GL3) and related glycosphingolipids in the cellular lysosomes throughout the body. The ma...

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Bibliografiske detaljer
Udgivet i:JIMD Rep
Main Authors: Holmes, Alexandrea, Laney, Dawn
Format: Artigo
Sprog:Inglês
Udgivet: Springer Berlin Heidelberg 2015
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4470955/
https://ncbi.nlm.nih.gov/pubmed/25701267
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2014_384
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