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An atypical p.N215S variant of Fabry disease with end-stage renal failure
Fabry disease is an X-linked metabolic disorder resulting in widespread deposition of Globotriaosylceramide within a variety of human tissues. The classical Fabry phenotype is one of early onset disease, with extensive tissue involvement resulting in acroparaesthesia, gastrointestinal disturbances,...
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| Publicado no: | Mol Genet Metab Rep |
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| Main Authors: | , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Elsevier
2018
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6047461/ https://ncbi.nlm.nih.gov/pubmed/30023289 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2018.01.006 |
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