Novel subtype of mucopolysaccharidosis caused by arylsulfatase K (ARSK) deficiency
由芳基硫酸酯酶K (ARSK) 缺乏引起的新型粘多糖贮积症亚型
期刊:Journal of Medical Genetics
影响因子:3.7
doi:10.1136/jmedgenet-2021-108061
Verheyen, Sarah; Blatterer, Jasmin; Speicher, Michael R; Bhavani, Gandham SriLakshmi; Boons, Geert-Jan; Ilse, Mai-Britt; Andrae, Dominik; Sproß, Jens; Vaz, Frédéric Maxime; Kircher, Susanne G; Posch-Pertl, Laura; Baumgartner, Daniela; Lübke, Torben; Shah, Hitesh; Al Kaissi, Ali; Girisha, Katta M; Plecko, Barbara