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ECHS1 gene

Known as: SHORT-CHAIN ENOYL-CoA HYDRATASE, SCEH, enoyl-CoA hydratase, short chain, 1, mitochondrial 
National Institutes of Health

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Enoyl-CoA Hydratase

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2020
Review
2020
Clinical, biochemical and metabolic characterization of patients with short-chain enoyl-CoA hydratase(ECHS1) deficiency: two case reports and the review of the literature
Background Short-chain enoyl-CoA hydratase (SCEH or ECHS1) deficiency is a rare congenital metabolic disorder caused by biallelic… 
2020
2020
Distinguishing Encephaloclastic Lesions Resulting From Primary or Secondary Pyruvate Dehydrogenase Deficiency From Other Neonatal or Infantile Cavitary Brain Lesions
The central nervous system (CNS) is a highly complex and energy-dependent organ that is subject to a wide variety of metabolic… 
2019
2019
Case report and novel treatment of an autosomal recessive Leigh syndrome caused by short‐chain enoyl‐CoA hydratase deficiency
Short chain enoyl‐CoA hydratase (SCEH) deficiency leads to a severe form of autosomal recessive Leigh syndrome with inevitable… 
2018
2018
Clinical, biochemical, and genetic features of four patients with short‐chain enoyl‐CoA hydratase (ECHS1) deficiency
Short‐chain enoyl‐CoA hydratase (SCEH or ECHS1) deficiency is a rare inborn error of metabolism caused by biallelic mutations in… 
2018
2018
Mitochondrial Encephalopathy and Transient 3-Methylglutaconic Aciduria in ECHS1 Deficiency: Long-Term Follow-Up.
We report the major diagnostic challenge in a female patient with signs and symptoms suggestive of an early-onset mitochondrial… 
Highly Cited
2015
Highly Cited
2015
Clinical and biochemical characterization of four patients with mutations in ECHS1
BackgroundShort-chain enoyl-CoA hydratase (SCEH, encoded by ECHS1) catalyzes hydration of 2-trans-enoyl-CoAs to 3(S)-hydroxy-acyl… 
2014
2014
SPONTANEOUS CERVİCAL EPİDURAL HEMATOMA DUE TO ORAL ANTİCOAGULANT USE
Spontaneous spinal epidural hematoma (SCEH) is a considerbaly rare clinical condition. It may lead to persistent neurological… 
2007
2007
The Future of Professional Hypnosis: Comment on Kirsch, Mazzoni, and Montgomery
Abstract I believe the paper by Kirsch, Mazzoni and Montgomery (this issue) should surprise about 95% of ASCH members (maybe only… 
1991
1991
Hypnosis in the 1990s--and beyond.
For this Presidential Address, I accepted the challenge to discuss my perception of the future directions of hypnotherapy. I… 
1977
1977
Altered states of consciousness and hypnosis: a discussion.
Abstract The author explains why it is important at this juncture in time to acquaint researchers and clinicians in the field of… 
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