Mitochondrial 3-hydroxymethylglutaryl-CoA synthase-2 (HMGCS2) deficiency: a rare case with bicytopenia and coagulopathy

El-Sayed, D; El-Karaksy, H; Wali, Y; Youssry, I

Wali, Y (通讯作者)，Sultan Qaboos Univ, Dept Child Hlth, Muscat, Oman.;Wali, Y (通讯作者)，Alexandria Univ, Fac Med, Alexandria, Egypt.

BMJ CASE REPORTS, 2023; 16 (11):

Abstract

Mitochondrial 3-hydroxymethylglutaryl-CoA synthase-2 (HMGCS2) is the main enzyme involved in ketogenesis. It is an essential enzyme for the catalysis ......

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