Cargando…
Mitochondrial Fatty Acid Oxidation Disorders Associated with Short-Chain Enoyl-CoA Hydratase (ECHS1) Deficiency
Mitochondrial fatty acid β-oxidation (FAO) is the primary pathway for fatty acid metabolism in humans, performing a key role in liver, heart and skeletal muscle energy homeostasis. FAO is particularly important during times of fasting when glucose supply is limited, providing energy for many organs...
Autores principales: | Sharpe, Alice J., McKenzie, Matthew |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2018
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6025059/ https://www.ncbi.nlm.nih.gov/pubmed/29882869 http://dx.doi.org/10.3390/cells7060046 |
Ejemplares similares
-
Clinical, biochemical, and genetic features of four patients with short‐chain enoyl‐CoA hydratase (ECHS1) deficiency
por: Fitzsimons, Patricia E., et al.
Publicado: (2018) -
Loss of mitochondrial fatty acid β‐oxidation protein short‐chain Enoyl‐CoA hydratase disrupts oxidative phosphorylation protein complex stability and function
por: Burgin, Harrison, et al.
Publicado: (2022) -
Exploring triheptanoin as treatment for short chain enoyl CoA hydratase deficiency
por: Engelstad, Kristin, et al.
Publicado: (2021) -
Clinical, biochemical and metabolic characterization of patients with short-chain enoyl-CoA hydratase(ECHS1) deficiency: two case reports and the review of the literature
por: Yang, Hua, et al.
Publicado: (2020) -
Pathogenic Biallelic Mutations in ECHS1 in a Case with Short-Chain Enoyl-CoA Hydratase (SCEH) Deficiency-Case Report and Literature Review
por: Muntean, Carmen, et al.
Publicado: (2022)