Fabry disease (FD) is an X- linked lysosomal storage disorder due to α-galactosidase A deficiency caused by mu- tation in the GLA gene [1, 2]. To date, more than 770 mutations have already been identi- fied, most of them are private alterations [3]. 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 α-galactosidase A mutation responsible for Fabry disease: A case report
Battaglia, Yuri
;
2019-01-01
Abstract
Fabry disease (FD) is an X- linked lysosomal storage disorder due to α-galactosidase A deficiency caused by mu- tation in the GLA gene [1, 2]. To date, more than 770 mutations have already been identi- fied, most of them are private alterations [3]. 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.
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