Clinical spectrum and outcome of nine patients with a novel genetic variant of galactosialidosis in the Kingdom of Bahrain

Galactosialidosis (GS, OMIM #256540) is a systemic autosomal recessive disorder that is due to a mutation in the cathepsin A (CTSA) gene. Its worldwide prevalence is rare, accounting for ~146 cases reported cases globally. In Bahrain alone, nine cases have been confirmed. This article aims to shed a...

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Detalles Bibliográficos
Autores principales: Alsahlawi, Zahra, Aljishi, Emtithal, Kheyami, Ammar, Alekri, Ahmed, Alwedaie, Sayed Mohammed Jawad
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2022
Materias:
Research Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9626659/
https://www.ncbi.nlm.nih.gov/pubmed/36341164
http://dx.doi.org/10.1002/jmd2.12330

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9626659/
https://www.ncbi.nlm.nih.gov/pubmed/36341164
http://dx.doi.org/10.1002/jmd2.12330

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