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A case of female Fabry disease revealed by renal biopsy
Fabry disease (FD) is an X-linked inherited glycosphingolipid metabolism disorder, therefore, heterozygous female FD patients display highly variable clinical symptoms, disease severity, and pathological findings. This makes it very challenging to diagnosing female patients with FD. A 69-year-old Ja...
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| Publicado no: | CEN Case Rep |
|---|---|
| Main Authors: | , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Springer Singapore
2019
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6990169/ https://ncbi.nlm.nih.gov/pubmed/31542871 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s13730-019-00420-5 |
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