A rare homozygous p.Arg87Trp variant of the GBA gene in Gaucher disease: A case report

Gaucher disease (GD) is a rare metabolic disorder due to pathogenic variants in the GBA gene. We report the first case of the rare p.Arg87Trp pathogenic variant (formerly known as R48W) of the GBA gene in the Tunisian population. A female Arab patient was assessed at the age of 26 due to abdominal d...

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Detalles Bibliográficos
Autores principales: Jilani, Houweyda, Hsoumi, Faten, Rejeb, Imen, Elaribi, Yasmina, Hizem, Syrine, Sebai, Molka, Rolfs, Arndt, Benjemaa, Lamia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9097371/
https://www.ncbi.nlm.nih.gov/pubmed/35592045
http://dx.doi.org/10.1002/ccr3.5846

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9097371/
https://www.ncbi.nlm.nih.gov/pubmed/35592045
http://dx.doi.org/10.1002/ccr3.5846

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