Multi-omics analysis of methylmalonic acidemia caused by a non-coding region variant in MMAA gene combined with uniparental disomy
HUO Xiaoyan, LUO Xiaomei, YE Xiantao, SUN Yu, YU Yongguo, LIANG Lili, FAN Yanjie
Journal of Shanghai Jiao Tong University (Medical Science) . 2025, (6): 800 -806 .  DOI: 10.3969/j.issn.1674-8115.2025.06.016