Fabry disease (FD) is an Xlinked lysosomal storage disorder due to ?-galactosidase A deficiency caused by mutation in the GLA gene. To date, more than 770 mutations have already been identified, most of them are private alterations. Here we report the case of a Bangladeshi patient who had been hospitalized because of abdominal pain and proteinuric renal failure due to a rare mutation in the GLA gene.
Identification of new ?-galactosidase A mutation responsible for Fabry disease: A case report
Duro G
2019
Abstract
Fabry disease (FD) is an Xlinked lysosomal storage disorder due to ?-galactosidase A deficiency caused by mutation in the GLA gene. To date, more than 770 mutations have already been identified, most of them are private alterations. Here we report the case of a Bangladeshi patient who had been hospitalized because of abdominal pain and proteinuric renal failure due to a rare mutation in the GLA gene.File in questo prodotto:
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