Phenotypic Variability of Kidney Involvement in Fabry Disease—Lessons from a Family Study

Fabry disease is an X-linked lysosomal storage disease that leads to the intracellular accumulation of glycosphingolipids in many tissues and fluids, including the kidneys. We report a single family with Fabry disease that includes seven patients carrying the pathogenic variant c.797A>C in the <i>GL...

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Hlavní autoři:	Elena-Emanuela Rusu, Ruxandra-Oana Jurcut, Mihaela Gherghiceanu, Filip Muresan, Gheona Altarescu, Bogdan Stanciulescu, Robert Adam, Alexandru Procop, Cristina Stoica, Bogdan Marian Sorohan, Vlad Stefanescu, Gener Ismail
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	MDPI AG 2026-05-01
Edice:	Life
Témata:	Fabry disease family screening kidney involvement kidney biopsy
On-line přístup:	https://www.mdpi.com/2075-1729/16/6/866
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