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Variable phenotypic presentations of renal involvement in Fabry disease: a case series [version 1; referees: 2 approved]
Fabry disease is an X-linked genetic deficiency in the alpha-galactosidase enzyme resulting in intracellular accumulation of glycosphingolipids and multisystem organ dysfunction. Typically 50% of males and 20% of affected females have renal involvement, ranging from proteinuria or reduced renal func...
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| Hlavní autoři: | , , |
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| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
F1000 Research Ltd
2018-03-01
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| Edice: | F1000Research |
| On-line přístup: | https://f1000research.com/articles/7-356/v1 |
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