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Impact of migalastat therapy on corneal deposits in a female with Fabry disease: A case report

Fabry disease is a rare X-linked lysosomal storage disorder caused by alpha-galactosidase A deficiency, leading to globotriaosylceramide accumulation in multiple organs, including the eye, where corneal verticillata represents a typical sign. This case report examines the effect of migalastat on cor...

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Autori principali: Nicola Vitturi, Giorgia Gugelmo, Francesca Zanini, Gianni Carraro, Livia Lenzini, Andrea Leonardi
Natura: Artigo
Lingua:Inglês
Pubblicazione: Elsevier 2026-06-01
Serie:Molecular Genetics and Metabolism Reports
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Accesso online:http://www.sciencedirect.com/science/article/pii/S2214426926000303
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