Analysis of identical MOCS1 gene variationbutdifferent clinical phenotypes in the same family with molyb⁃ denum cofactor deficiency 
GUAN Ruilian, LAI Liming.
The Journal of Practical Medicine . 2023, (13): 1682 -1687 .  DOI: 10.3969/j.issn.1006⁃5725.2023.13.015