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Source: Metabolic Brain Disease
Procedure: Skin Biopsy
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Total 2 results found since Jan 2013.
Late-onset Fabry disease due to a new (p.Pro380Leu) pathogenic variant of GLA Gene
AbstractFabry disease is a rare X-linked lysosomal storage disorder due to pathogenic variants of the galactosidase alpha (GLA) gene, leading to a deficiency of alpha-galactosidase A. The inadequate enzymatic activity leads to progressive glycosphingolipids accumulation within tissues and subsequent multi-systemic dysfunction, with predominant involvement of heart, kidney, and nervous system. Two subtypes are recognized: the classic type and the late-onset type. We here describe the clinical characteristics of a patient with late-onset Fabry disease carrying a not previously identified GLA gene variant. This 50-year-old ma...
Source: Metabolic Brain Disease - September 30, 2022 Category: Neurology Source Type: research
