Novel subtype of mucopolysaccharidosis caused by arylsulfatase K (ARSK) deficiency

Conclusion Our work provides a detailed clinical and molecular characterisation of a novel subtype of mucopolysaccharidosis, which we suggest to designate subtype X.

http://jmg.bmj.com/cgi/content/short/59/10/957?rss=1

Source: Journal of Medical Genetics - September 26, 2022 Category: Genetics & Stem Cells Authors: Verheyen, S., Blatterer, J., Speicher, M. R., Bhavani, G. S., Boons, G.-J., Ilse, M.-B., Andrae, D., Spross, J., Vaz, F. M., Kircher, S. G., Posch-Pertl, L., Baumgartner, D., Lübke, T., Shah, H., Al Kaissi, A., Girisha, K. M., Plecko, B. Tags: Open access Biochemical genetics Source Type: research