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Fabry's disease: An ultrastructural study of nerve biopsy
Fabry's disease, an X linked recessive disorder caused by the deficiency of α-galactosidase A (α-gal A), leads to progressive accumulation of glycosphingolipids. We report this rare disease in a 19-year-old boy who presented with angiokeratomas, paresthesia and corneal opacities, and nerve biop...
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| Autori principali: | , , , , , , |
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| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
Medknow Publications
2008
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2771983/ https://ncbi.nlm.nih.gov/pubmed/19893666 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4103/0972-2327.42939 |
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