@article{urbanski_bekri_barth_verny_lavigne_2014,  title={A Case of Type I Sialidosis With Osteonecrosis Revealing a New Mutation in NEU1},  volume={2},  ISSN={2326-4594},  url={https://doi.org/10.1177/2326409814543468},  DOI={10.1177/2326409814543468},  journal={Journal of Inborn Errors of Metabolism and Screening},  publisher={Latin American Society Inborn Errors and Neonatal Screening (SLEIMPN); Instituto Genética para Todos (IGPT)},  author={Urbanski, Geoffrey and Bekri, Soumeya and Barth, Magalie and Verny, Christophe and Lavigne, Christian},  year={2014},  pages={e140005} }