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...

وصف كامل

التفاصيل البيبلوغرافية

المؤلفون الرئيسيون:	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
التنسيق:	Artigo
اللغة:	Inglês
منشور في:	MDPI AG 2026-05-01
سلاسل:	Life
الموضوعات:	Fabry disease family screening kidney involvement kidney biopsy
الوصول للمادة أونلاين:	https://www.mdpi.com/2075-1729/16/6/866
الوسوم:	إضافة وسم لا توجد وسوم, كن أول من يضع وسما على هذه التسجيلة!