New clinical phenotype of branched-chain acyl-CoA oxidation defect

New clinical phenotype of branched-chain acyl-CoA oxidation defect

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http://www.wikidata.org/entity/Q57588501
Characterization of patient mutations in human persulfide dioxygenase (ETHE1) involved in H2S catabolismClinical heterogeneity in ethylmalonic encephalopathyEthylmalonic encephalopathy: application of improved biochemical and molecular diagnostic approachesLoss of ETHE1, a mitochondrial dioxygenase, causes fatal sulfide toxicity in ethylmalonic encephalopathyMultiple sources of metabolic disturbance in ETHE1-related ethylmalonic encephalopathy.Effective AAV-mediated gene therapy in a mouse model of ethylmalonic encephalopathyProteome adaptations in Ethe1-deficient mice indicate a role in lipid catabolism and cytoskeleton organization via post-translational protein modifications.Liver transplant in ethylmalonic encephalopathy: a new treatment for an otherwise fatal disease.An infant with ethylmalonic encephalopathy masquerading as a hematologic disorder.Turkish case of ethylmalonic encephalopathy misdiagnosed as short chain acyl-CoA dehydrogenase deficiency.Successful treatment of a patient with ethylmalonic encephalopathy by intravenous N-acetylcysteine.Morphologic evidence of diffuse vascular damage in human and in the experimental model of ethylmalonic encephalopathy.Expression of abiotic stress inducible ETHE1-like protein from rice is higher in roots and is regulated by calcium.
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New clinical phenotype of branched-chain acyl-CoA oxidation defect

Item
http://www.wikidata.org/entity/Q57588501
description
article publié dans la revue scientifique The Lancet
@fr
im Dezember 1991 veröffentlichter wissenschaftlicher Artikel
@de
scientific article published in The Lancet
@en
wetenschappelijk artikel
@nl
наукова стаття, опублікована в грудні 1991
@uk
ശാസ്ത്രപ്രബന്ധം
@ml
name
New clinical phenotype of branched-chain acyl-CoA oxidation defect
@en
New clinical phenotype of branched-chain acyl-CoA oxidation defect
@nl
type
label
New clinical phenotype of branched-chain acyl-CoA oxidation defect
@en
New clinical phenotype of branched-chain acyl-CoA oxidation defect
@nl
prefLabel
New clinical phenotype of branched-chain acyl-CoA oxidation defect
@en
New clinical phenotype of branched-chain acyl-CoA oxidation defect
@nl
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New clinical phenotype of branched-chain acyl-CoA oxidation defect
@en
P2093
P304
P31
P356
10.1016/0140-6736(91)92338-3
P407
P433
P478
P50
P577