Mitochondrial HMG-CoA Synthase Deficiency Presenting as Pediatric Metabolic Stroke: A Case Report of a Novel Homozygous HMGCS2 (p.Ile56Asn) Variant
线粒体HMG-CoA合成酶缺乏症表现为儿童代谢性卒中:一例新型纯合HMGCS2(p.Ile56Asn)变异病例报告
期刊:Clinical Case Reports
影响因子:0.6
doi:10.1002/ccr3.71622
Alshami, Yasmeen; Hroub, Osama; Hroub, Mohammad; Abouodeh, Saja; Makhamre, Zahra; Hammouri, Ahmad G; Alzatari, Ibrahim; Atawneh, Osama