Sijia Zhu Dongxue Ding Jianhua Jiang Meirong Liu Liqiang Yu Qi Fang
10.3389/fneur.2023.1087421
Front Neurol
2023 Jan 27;14:1087421.
acmg etfdh compound heterozygous mutations functional analysis glutaric aciduria type ii riboflavin supplement
CC BY
https://pubmed.ncbi.nlm.nih.gov/36779069/
Case Reports
PMC9911658
36779069
Case report: Novel ETFDH compound heterozygous mutations identified in a patient with late-onset glutaric aciduria type II
2023