| Autor: |
Joaquín Frabasil, Consuelo Durand, Silvia Sokn, Daniela Gaggioli, Patricia Carozza, Ricardo Carabajal, Juan Politei, Andrea B. Schenone |
| Jazyk: |
angličtina |
| Rok vydání: |
2019 |
| Předmět: |
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| Zdroj: |
JIMD Reports, Vol 48, Iss 1, Pp 45-52 (2019) |
| Druh dokumentu: |
article |
| ISSN: |
2192-8312 |
| DOI: |
10.1002/jmd2.12035 |
| Popis: |
Abstract Background Fabry disease (FD) is an X‐linked lysosomal storage disorder caused by enzyme Alpha‐Galactosidase A (α‐Gal‐A) deficiency, due mutations in GLA gene. Progressive glycolipid accumulation leads to damage in kidney and other organs. The aim of this study was to estimate the prevalence of Fabry disease in Argentinean male patients undergoing dialysis. Methods A prospective screening study was carried out measuring the α‐Gal‐A activity in dried blood spot (DBS) samples of male patients undergoing dialysis from Argentina. Those patients in which DBS α‐Gal‐A level was low ( |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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