@article{Sun2024, 
author = {Miao Sun and Cornelia K. Kaminsky and Philip Deppe and Mai-Britt Ilse and Frédéric M. Vaz and Barbara Plecko and Torben Lübke and Linda M. Randolph},
title = {A novel homozygous missense variant in ARSK causes MPS X, a new subtype of mucopolysaccharidosis},
year = {2024},
journal = {Genes & Diseases},
volume = {11},
number = {3},
pages = {101025},
url = {https://www.sciopen.com/article/10.1016/j.gendis.2023.06.003},
doi = {10.1016/j.gendis.2023.06.003},
abstract = {}
}