Search results for: 1 deoxygalactonojirimycin

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  • A rare disease a day: Fabry disease

    Day 5 of ‘a rare disease a day’ following on from Hunter syndrome, Gaucher disease, Tay-Sachs, and Morquio syndrome it is the turn of Fabry disease (which is also¬† known as Fabry’s disease, Anderson-Fabry disease, angiokeratoma corporis diffusum and alpha-galactosidase A deficiency). The disease is caused by a deficiency of the enzyme alpha galactosidase A …

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