Mitochondrial HMG‐CoA Synthase Deficiency Presenting as Pediatric Metabolic Stroke: A Case Report of a Novel Homozygous HMGCS2 (p.Ile56Asn) Variant.

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Title: Mitochondrial HMG‐CoA Synthase Deficiency Presenting as Pediatric Metabolic Stroke: A Case Report of a Novel Homozygous HMGCS2 (p.Ile56Asn) Variant.
Authors: Alshami, Yasmeen1 (AUTHOR) shamiyasmeen26@gmail.com, Hroub, Osama2 (AUTHOR) osama.hroub.55@gmail.com, Hroub, Mohammad2 (AUTHOR) mohammad.hr200111@gmail.com, Abouodeh, Saja1 (AUTHOR) sajamahmoudabouodeh@gmail.com, Makhamre, Zahra2 (AUTHOR) zahramkh96.3@gmail.com, Hammouri, Ahmad G.3 (AUTHOR) ahmadalhammouri94@gmail.com, Alzatari, Ibrahim4 (AUTHOR) zatari_ibrahim@hotmail.com, Atawneh, Osama5 (AUTHOR) osamaat@gmail.com
Source: Clinical Case Reports. Dec2025, Vol. 13 Issue 12, p1-4. 4p.
Database: Academic Search Ultimate
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