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Lab affiliation
1.School of Life and Environmental Sciences, Faculty of Science, Engineering and Built Environment, Deakin University, Geelong 3216, Australia 2.Centre for Innate Immunity and Infectious Diseases, Hudson Institute of Medical Research, 3168 Melbourne, Australia 3.Department of Molecular and Translational Science, Monash University, 3168 Melbourne, Australia
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xref:PubMed:36293464
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xref:PubMed:35962613
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Valine metabolites analysis in ECHS1 deficiency.
Not available
S-EPMC8507190
|
biostudies-literature
Cite
Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement.
Not available
S-EPMC4435704
|
biostudies-literature
Cite
ECHS1 Deficiency as a Cause of Severe Neonatal Lactic Acidosis.
Not available
S-EPMC5110442
|
biostudies-literature
Cite
Clinical, biochemical, and genetic features of four patients with short-chain enoyl-CoA hydratase (ECHS1) deficiency.
Not available
S-EPMC5947294
|
biostudies-literature
Cite
Neurological, metabolic and inflammatory phenotypes in a mouse model of ECHS1 deficiency.
Not available
S-EPMC12715774
|
biostudies-literature
Cite
Extrapolation of Variant Phase in Mitochondrial Short-Chain Enoyl-CoA Hydratase (ECHS1) Deficiency.
Not available
S-EPMC6323015
|
biostudies-literature
Cite
Pathogenic Biallelic Mutations in ECHS1 in a Case with Short-Chain Enoyl-CoA Hydratase (SCEH) Deficiency-Case Report and Literature Review.
Not available
S-EPMC8871535
|
biostudies-literature
Cite
Valine and Inflammation Drive Epilepsy in a Mouse Model of ECHS1 Deficiency.
Not available
S-EPMC11195255
|
biostudies-literature
Cite
Dystonia-ataxia syndrome with permanent torsional nystagmus caused by ECHS1 deficiency.
Not available
S-EPMC7261751
|
biostudies-literature
Cite
Structural and biochemical mechanism of short-chain enoyl-CoA hydratase (ECHS1) substrate recognition.
Not available
S-EPMC12003839
|
biostudies-literature
Cite
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