GBA1 variants in Brazilian Gaucher disease patients

Gaucher disease (GD) is an autosomal recessive lysosomal disorder caused by pathogenic variants in GBA1 which result in the deficient activity of glucocerebrosidase (GCase). There are few data on the genetic characterization of Brazilian GD patients. This study aimed at characterizing the genotype o...

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Detalles Bibliográficos
Autores principales: Basgalupp, Suelen Porto, Altmann, Vivian, Vairo, Filippo Pinto e, Schwartz, Ida Vanessa Doederlein, Siebert, Marina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2023
Materias:
Research Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10694776/
http://dx.doi.org/10.1016/j.ymgmr.2023.101006

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10694776/
http://dx.doi.org/10.1016/j.ymgmr.2023.101006

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