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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: Gayathri, N., Yasha, T. C., Kanjalkar, Makarand, Agarwal, Santosh, Sagar, B. K. Chandrashekar, Santosh, Vani, Shankar, S. K.
Natura: Artigo
Lingua:Inglês
Pubblicazione: Medknow Publications 2008
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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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