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Demographic and Clinical Characteristics of the Full 2015-2018 Cohort of Romanian Fabry Disease Patients
Background. Fabry disease (FD) is a rare genetic lysosomal disease with an estimated prevalence of 1:100000. Mutations on the GLA gene lead to alpha-galactosidase deficiency and multiorgan involvement due to sphingolipid accumulation. Our aim was to present and analyze the demographic and clinical c...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Medical University Publishing House Craiova
2019
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6993771/ https://www.ncbi.nlm.nih.gov/pubmed/32042454 http://dx.doi.org/10.12865/CHSJ.45.03.04 |