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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,...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Elsevier
2018
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6047461/ https://www.ncbi.nlm.nih.gov/pubmed/30023289 http://dx.doi.org/10.1016/j.ymgmr.2018.01.006 |