Human Mitochondrial HMG-CoA Synthase Deficiency: Role of Enzyme Dimerization Surface and Characterization of Three New Patients

Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency (mitochondrial HMG-CoA synthase deficiency or mHS deficiency, OMIM #605911) is an inborn error of metabolism that affects ketone body synthesis. Acute episodes include vomiting, lethargy, hepatomegaly, hypoglycemia and dicarboxylic aci...

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Detalles Bibliográficos
Autores principales: Puisac, Beatriz, Marcos-Alcalde, Iñigo, Hernández-Marcos, María, Tobajas Morlana, Pilar, Levtova, Alina, Schwahn, Bernd C., DeLaet, Corinne, Lace, Baiba, Gómez-Puertas, Paulino, Pié, Juan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5979369/
https://www.ncbi.nlm.nih.gov/pubmed/29597274
http://dx.doi.org/10.3390/ijms19041010

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5979369/
https://www.ncbi.nlm.nih.gov/pubmed/29597274
http://dx.doi.org/10.3390/ijms19041010

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