Galactosialidosis (GSL)
Author:
Publisher
Springer International Publishing
Link
https://link.springer.com/content/pdf/10.1007/978-3-319-66816-1_1746-1
Reference10 articles.
1. Annunziata I, d’Azzo A (2017) Galactosialidosis: historic aspects and overview of investigated and emerging treatment options. Expert Opin Orphan Drugs 5:131–141. https://doi.org/10.1080/21678707.2016.1266933
2. Caciotti A et al (2013) Galactosialidosis: review and analysis of CTSA gene mutations. Orphanet J Rare Dis 8:114. https://doi.org/10.1186/1750-1172-8-114
3. Darin N, Kyllerman M, Hård AL, Nordborg C, Månsson JE (2009) Juvenile galactosialidosis with attacks of neuropathic pain and absence of sialyloligosacchariduria. Eur J Paediatr Neurol 13:553–555. https://doi.org/10.1016/j.ejpn.2008.11.003
4. Ketterer S, Gomez-Auli A, Hillebrand LE, Petrera A, Ketscher A, Reinheckel T (2017) Inherited diseases caused by mutations in cathepsin protease genes. FEBS J 284:1437–1454. https://doi.org/10.1111/febs.13980
5. Kleijer WJ et al (1996) Cathepsin a deficiency in galactosialidosis: studies of patients and carriers in 16 families. Pediatr Res 39:1067–1071. https://doi.org/10.1203/00006450-199606000-00022
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