Genetic and phenotypic profile of Fabry disease in the population of Vale do Paraiba and Eastern São Paulo
ABSTRACT Introduction: Fabry disease (FD) is an inborn error of metabolism characterized by α-galactosidase A deficiency. The primary objective was to evaluate the genetic and phenotypic profile of Fabry disease in hemodialysis. Methods: Observational cohort study to determine the incidence of gen...
| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
| Published: |
Sociedade Brasileira de Nefrologia
2023-02-01
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| Series: | Brazilian Journal of Nephrology |
| Subjects: | |
| Online Access: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0101-28002023005005502&lng=en&tlng=en |