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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...
Autores principales: | Alsahlawi, Zahra, Aljishi, Emtithal, Kheyami, Ammar, Alekri, Ahmed, Alwedaie, Sayed Mohammed Jawad |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley & Sons, Inc.
2022
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Materias: | |
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 |
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