Gaurav Jain

All articles by Gaurav Jain

Genetic: Fabry's Disease

Does this patient have Fabry disease? Fabry disease is a genetic lysosomal storage disorder caused by defects in the GLA gene on the X chromosome, leading to a deficiency in alpha-galactosidase A. This leads to an accumulation of glycosphingolipids in multiple tissues and cell types, with subsequent organ dysfunction related to direct deposition of the…

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