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Bookmark or Share- Fabry Disease - Symptoms, Causes, Treatment | NORDFabry disease: identification of 50 novel alpha-galactosidase A mutations causing the classic phenotype and three-dimensional structural analysis of 29 missense mutations. Hum Genomics. 2006; 2:297-309. Sher NA, Letson RD, Desnick RJ. The ocular manifestations in Fabry’s disease. Arch Ophthalmol. 1979; 97:671-676.
- Fabry Disease: Symptoms & Causes - Cleveland ClinicFabry disease is a type of lysosomal storage disorder. Without functioning alpha-GAL enzymes, harmful levels of sphingolipids build up in your blood vessels and tissues. Fabry disease affects your heart, kidneys, brain, central nervous system and skin.
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