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Article

Molecular, Metabolic and Inflammatory Patterns Involved in Pathogenesis of Anderson-Fabry Disease

2025-12-09

Abstract excerpt

Anderson–Fabry disease (FD) is an X-linked lysosomal storage disorder caused by pathogenic variants in the GLA gene, resulting in deficient α-galactosidase A activity and progressive accu-mulation of globotriaosylceramide (Gb3) and its derivative lyso-Gb3 within lysosomes. Beyond substrate storage, FD involves a complex interplay of molecular, metabolic, and inflammatory disturbances that collectively drive multis...

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Literature Corpus work
7763b2fe-1c05-5714-8e0a-9336d89fc92c
DOI
10.20944/preprints202512.0716.v1
Open publication

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Molecular, Metabolic and Inflammatory Patterns Involved in Pathogenesis of Anderson-Fabry DiseaseDOI 10.20944/preprints202512.0716.v1
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