Clinical, Biochemical, Molecular, and Outcome Features of Mitochondrial 3-Hydroxy-3-Methylglutaryl-CoA Synthase Deficiency in 10 Chinese Patients

Background: Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency (HMGCS2D) is a rare autosomal recessive metabolic disorder caused by mutations of the HMGCS2 gene. To date, no more than 60 patients have been reported throughout the world. Purpose: To analyze the clinical, biochemical, mo...

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Detalles Bibliográficos
Autores principales: Wu, Shengnan, Shen, Linghua, Chen, Qiong, Gong, Chunxiu, Yang, Yanling, Wei, Haiyan, Cao, Bingyan, Chen, Yongxing
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8931749/
https://www.ncbi.nlm.nih.gov/pubmed/35308163
http://dx.doi.org/10.3389/fgene.2021.816779

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8931749/
https://www.ncbi.nlm.nih.gov/pubmed/35308163
http://dx.doi.org/10.3389/fgene.2021.816779

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