Novel HMGCS2 pathogenic variants in a Chinese family with mitochondrial 3‐hydroxy‐3‐methylglutaryl‐CoA synthase deficiency

Abstract Importance Mitochondrial 3‐hydroxy‐3‐methylglutaryl‐CoA (HMG‐CoA) synthase deficiency is a rare and underdiagnosed disorder with fewer than 30 patients reported worldwide. The application of whole‐exome sequencing in patients could improve our understanding of this disorder. Objective To id...

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Hlavní autoři:	Pengfei Zhang, Xuyun Hu, Ruolan Guo, Jun Guo, Wei Li, Suyun Qian, Chanjuan Hao, Jun Liu
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	Wiley 2019-06-01
Edice:	Pediatric Investigation
Témata:	HMGCS2 mutation Hypoketotic hypoglycemia Mitochondrial HMG‐CoA synthase deficiency Pediatric intensive care unit Whole‐exome sequencing
On-line přístup:	https://doi.org/10.1002/ped4.12130
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