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pro vyhledávání: '"Eduarda M. S. Montenegro"'
Autor:
Sandra Marques e Silva, Ândrea V. F. Chaves, Murillo O. Antunes, Natalia R. Roque, Eduarda M. S. Montenegro, Isabelle Malbouisson, Maurício A. de Paula, Edileide B. Correia
Publikováno v:
Journal of Inborn Errors of Metabolism and Screening, Vol 12 (2024)
Abstract Fabry disease (FD) is a rare, x-linked lysosomal storage disease caused by mutations in the GLA gene that leads to total or partial alfa galactosidase A deficiency. Its prevalence ranges between 1:117,000 and 1:8,454. Mutations in the GLA ge
Externí odkaz:
https://doaj.org/article/0739f9c20d3e492a81052c6299d783b6
