Shao-Jia Mao Yu-Mei Zu Yang-Li Dai Chao-Chun Zou
10.3389/fped.2022.852701
Front Pediatr
2022 Apr 8;10:852701.
gnptab n-acetylglucosamine-1-phosphotransferase genetic testing mucolipidosis variant site
CC BY
https://pubmed.ncbi.nlm.nih.gov/35463894/
Case Reports
PMC9033252
35463894
Case Report: Mucolipidosis II and III Alpha/Beta Caused by Pathogenic Variants in the GNPTAB Gene (Mucolipidosis)
2022