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Elevated Lyso-Gb3 Suggests the R118C GLA Mutation Is a Pathological Fabry Variant
Background: Fabry disease (FD), an X-linked lysosomal storage disease, results from an α-galactosidase A deficiency and altered sphingolipid metabolism. An accumulation of globotriaosylsphingosine (lyso-Gb3) likely triggers the pathological cascade leading to disease phenotype. The pathogenic signif...
Gorde:
| Argitaratua izan da: | JIMD Rep |
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| Egile Nagusiak: | , |
| Formatua: | Artigo |
| Hizkuntza: | Inglês |
| Argitaratua: |
Springer Berlin Heidelberg
2018
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| Gaiak: | |
| Sarrera elektronikoa: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6336544/ https://ncbi.nlm.nih.gov/pubmed/30569317 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2018_146 |
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