Clinical spectrum and outcome of nine patients with a novel genetic variant of galactosialidosis in the Kingdom of Bahrain
Abstract 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...
| Main Authors: | , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Wiley
2022-11-01
|
| Series: | JIMD Reports |
| Subjects: | |
| Online Access: | https://doi.org/10.1002/jmd2.12330 |