Timely intervention in HMG-CoA Lyase deficiency: The role of newborn screening, metabolic management, and genomic sequencing
及时干预HMG-CoA裂解酶缺乏症:新生儿筛查、代谢管理和基因组测序的作用
期刊:Molecular Genetics and Metabolism Reports
影响因子:1.9
doi:10.1016/j.ymgmr.2025.101278
Menkovic, Iskren; Makhijani, Neelam; Francescatto, Ludmila; Pendyal, Surekha; Stanley, Christine; Young, Sarah P; Koeberl, Dwight D; Niyazov, Dmitriy; Stiles, Ashlee R