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Ronald J A Wanders, Jirair K Bedoyan, Samuel P Yang, Sacha Ferdinandusse, Alexander Miron, Douglas S Kerr, Charles L Hoppel, Suzanne D DeBrosse, Rhona M Jack, George Grahame

Molecular genetics and metabolism 2017;120(4):342-349

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Two novel ECHS1 variants, affecting splicing and reducing enzyme activity, is associated with mitochondrial encephalopathy in infant: a case report.

Miaojuan Wu, Wenqi Gao, Zhifang Deng, Zhisheng Liu, Jiehui Ma, Han Xiao, Yu Xu, Dan Sun

BMC neurology 2020;20(1):165

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Thiamine and magnesium deficiencies: keys to disease.

D Lonsdale

Medical hypotheses 2015;84(2):129-34

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Delineating the neurological phenotype in children with defects in the ECHS1 or HIBCH gene.

Laura Marti-Sanchez, Heidy Baide-Mairena, Anna Marcé-Grau, Roser Pons, Anastasia Skouma, Eduardo López-Laso, Maria Sigatullina, Cristiano Rizzo, Michela Semeraro, Diego Martinelli, Rosalba Carrozzo, Carlo Dionisi-Vici, Luis González-Gutiérrez-Solana, Marta Correa-Vela, Juan Dario Ortigoza-Escobar, Ángel Sánchez-Montañez, Élida Vazquez, Ignacio Delgado, Sergio Aguilera-Albesa, María Eugenia Yoldi, Antonia Ribes, Frederic Tort, Luca Pollini, Serena Galosi, Vincenzo Leuzzi, Manuela Tolve, Laura Pérez-Gay, Luis Aldamiz-Echevarría, Mireia Del Toro, Antonio Arranz, Filip Roelens, Roser Urreizti, Rafael Artuch, Alfons Macaya, Belén Pérez-Dueñas

Journal of inherited metabolic disease 2021;44(2):401-414

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Clinical consequences of defects in peroxisomal beta-oxidation.

P T Clayton

Biochemical Society transactions 2001;29(Pt 2):298-305

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A discovery-driven approach to elucidate urinary metabolome changes after a regular and moderate consumption of beer and nonalcoholic beer in subjects at high cardiovascular risk.

Gemma Chiva-Blanch, Olga Jáuregui, Ramon Estruch, Rosa M Lamuela-Raventós, Paola Quifer-Rada

Molecular nutrition & food research 2018;61(10):

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Rewired metabolism in drug-resistant leukemia cells: a metabolic switch hallmarked by reduced dependence on exogenous glutamine.

Claudia Stäubert, Hasanuzzaman Bhuiyan, Anna Lindahl, Oliver Jay Broom, Yafeng Zhu, Saiful Islam, Sten Linnarsson, Janne Lehtiö, Anders Nordström

The Journal of biological chemistry 2015;290(13):8348-59

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Results for ""Enoyl-CoA Hydratase""[mesh_terms]

Biosynthesis of Vanillin by Rational Design of Enoyl-CoA Hydratase/Lyase.

Pathogenic Biallelic Mutations in ECHS1 in a Case with Short-Chain Enoyl-CoA Hydratase (SCEH) Deficiency-Case Report and Literature Review.

Clinical, biochemical and metabolic characterization of patients with short-chain enoyl-CoA hydratase(ECHS1) deficiency: two case reports and the review of the literature.

The benzoyl-coenzyme a reductase and 2-hydroxyacyl-coenzyme a dehydratase radical enzyme family.

Novel ECHS1 mutation in an Emirati neonate with severe metabolic acidosis.

Expanding the Clinical and Genetic Spectrum of Mitochondrial Short-Chain Enoyl-CoA Hydratase 1 Deficiency: Insights From Two Unrelated Chinese Families.

Lethal neonatal case and review of primary short-chain enoyl-CoA hydratase (SCEH) deficiency associated with secondary lymphocyte pyruvate dehydrogenase complex (PDC) deficiency.

Two novel ECHS1 variants, affecting splicing and reducing enzyme activity, is associated with mitochondrial encephalopathy in infant: a case report.

Thiamine and magnesium deficiencies: keys to disease.

Delineating the neurological phenotype in children with defects in the ECHS1 or HIBCH gene.

Clinical consequences of defects in peroxisomal beta-oxidation.

A discovery-driven approach to elucidate urinary metabolome changes after a regular and moderate consumption of beer and nonalcoholic beer in subjects at high cardiovascular risk.

Rewired metabolism in drug-resistant leukemia cells: a metabolic switch hallmarked by reduced dependence on exogenous glutamine.

Results for
""Enoyl-CoA Hydratase""[mesh_terms]