Ethylmalonic aciduria is associated with an amino acid variant of short chain acyl-coenzyme A dehydrogenase.
about
Isolated 2-methylbutyrylglycinuria caused by short/branched-chain acyl-CoA dehydrogenase deficiency: identification of a new enzyme defect, resolution of its molecular basis, and evidence for distinct acyl-CoA dehydrogenases in isoleucine and valineStructural organization of the human short-chain acyl-CoA dehydrogenase geneSevere infantile hypotonia with ethylmalonic aciduria: case reportShort-chain acyl-coenzyme A dehydrogenase deficiencyVulnerability to oxidative stress in vitro in pathophysiology of mitochondrial short-chain acyl-CoA dehydrogenase deficiency: response to antioxidantsInborn errors of mitochondrial fatty acid oxidation.Complex changes in the liver mitochondrial proteome of short chain acyl-CoA dehydrogenase deficient mice.Short-chain acyl-CoA dehydrogenase (SCAD) deficiency: an examination of the medical and neurodevelopmental characteristics of 14 cases identified through newborn screening or clinical symptomsScreening for medium chain acyl-CoA dehydrogenase deficiency using electrospray ionisation tandem mass spectrometry.Metabolic annotation of 2-ethylhydracrylic acidEffective AAV-mediated gene therapy in a mouse model of ethylmalonic encephalopathyNewborn screening: After the thrill is gone.Compound heterozygous mutations of ACADS gene in newborn with short chain acyl-CoA dehydrogenase deficiency: case report and literatures review.Identification and Quantitation of Malonic Acid Biomarkers of In-Born Error Metabolism by Targeted Metabolomics.ECHS1 mutations cause combined respiratory chain deficiency resulting in Leigh syndrome.Short-chain acyl-CoA dehydrogenase deficiency: from gene to cell pathology and possible disease mechanisms.Clinical relevance of short-chain acyl-CoA dehydrogenase (SCAD) deficiency: Exploring the role of new variants including the first SCAD-disease-causing allele carrying a synonymous mutation.Rare disorders of metabolism with elevated butyryl- and isobutyryl-carnitine detected by tandem mass spectrometry newborn screening.Misfolding, degradation, and aggregation of variant proteins. The molecular pathogenesis of short chain acyl-CoA dehydrogenase (SCAD) deficiency.Development of a newborn screening follow-up algorithm for the diagnosis of isobutyryl-CoA dehydrogenase deficiency.Precision medicine screening using whole-genome sequencing and advanced imaging to identify disease risk in adults.
P2860
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P2860
Ethylmalonic aciduria is associated with an amino acid variant of short chain acyl-coenzyme A dehydrogenase.
description
1996 nî lūn-bûn
@nan
1996年の論文
@ja
1996年論文
@yue
1996年論文
@zh-hant
1996年論文
@zh-hk
1996年論文
@zh-mo
1996年論文
@zh-tw
1996年论文
@wuu
1996年论文
@zh
1996年论文
@zh-cn
name
Ethylmalonic aciduria is assoc ...... acyl-coenzyme A dehydrogenase.
@en
type
label
Ethylmalonic aciduria is assoc ...... acyl-coenzyme A dehydrogenase.
@en
prefLabel
Ethylmalonic aciduria is assoc ...... acyl-coenzyme A dehydrogenase.
@en
P2093
P2860
P1433
P1476
Ethylmalonic aciduria is assoc ...... acyl-coenzyme A dehydrogenase.
@en
P2093
E Christensen
G Martinez
M J Corydon
N Gregersen
P2860
P304
P356
10.1203/00006450-199606000-00021
P407
P577
1996-06-01T00:00:00Z
P6179
1064208441