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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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| Udgivet i: | JIMD Rep |
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| Main Authors: | , |
| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
Springer Berlin Heidelberg
2015
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| 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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