Association of a novel homozygous mutation in the HMGCS2 gene with an HMGCSD in an Iranian patient

BACKGROUND: 3‐Hydroxy‐3‐methylglutaryl‐CoA (HMG‐CoA) synthase 2 gene (HMGCS2) encodes a mitochondrial enzyme catalyzing the first reaction of ketogenesis metabolic pathway which provides lipid‐derived energy for various organs during times of carbohydrate deprivation, such as fasting. Mutations in t...

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Detalles Bibliográficos
Autores principales: Heidari, Masoud, Soleyman‐Nejad, Morteza, Isazadeh, Alireza, Shapouri, Javad, Taskhiri, Mohammad Hossein, Ahangari, Roghayyeh, Mohamadi, Ali Reza, Ebrahimi, Masoumeh, Karimi, Hadi, Bolhassani, Manzar, Karimi, Zahra, Heidari, Mansour
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7667326/
https://www.ncbi.nlm.nih.gov/pubmed/32969201
http://dx.doi.org/10.1002/mgg3.1507

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7667326/
https://www.ncbi.nlm.nih.gov/pubmed/32969201
http://dx.doi.org/10.1002/mgg3.1507

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