1 Publikation
-
2023 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2981846Sun, M., Kaminsky, C. K., Deppe, P., Ilse, M. - B., Vaz, F. M., Plecko, B., Lübke, T., and Randolph, L. M. (2023). A novel homozygous missense variant in ARSK causes MPS X, a new subtype of mucopolysaccharidosis. Genes & Diseases 11: 101025.PUB | DOI | PubMed | Europe PMC