Study on the clinical characteristics and genetic mechanisms of mucolipidosis Ⅲα/β caused by a novel mutation in the GNPTAB gene
Li WANG,Congcong SHI,Xueqin YAN,Jiayan TANG,Sitao LI,Hu HAO,Xin. XIAO
The Journal of Practical Medicine . 2024, (24): 3575 -3581 .  DOI: 10.3969/j.issn.1006-5725.2024.24.022