Ethylmalonic encephalopathy: clinical and biochemical observations

Ethylmalonic encephalopathy: clinical and biochemical observations

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http://www.wikidata.org/entity/Q28241624
Ethylmalonic encephalopathy: application of improved biochemical and molecular diagnostic approachesEthylmalonic encephalopathy ETHE1 R163W/R163Q mutations alter protein stability and redox properties of the iron centre.Multiple sources of metabolic disturbance in ETHE1-related ethylmalonic encephalopathy.Effects of a block in cysteine catabolism on energy balance and fat metabolism in mice.Metabolic causes of epileptic encephalopathyH2S biosynthesis and catabolism: new insights from molecular studies.Disruption of mitochondrial homeostasis in organic acidurias: insights from human and animal studies.Altered sulfide (H(2)S) metabolism in ethylmalonic encephalopathy.Identification and Quantitation of Malonic Acid Biomarkers of In-Born Error Metabolism by Targeted Metabolomics.Severe early onset ethylmalonic encephalopathy with West syndrome.Neurological and Vascular Manifestations of Ethylmalonic Encephalopathy.Successful treatment of a patient with ethylmalonic encephalopathy by intravenous N-acetylcysteine.Ethylmalonic acid induces permeability transition in isolated brain mitochondria.Altered Redox Homeostasis in Branched-Chain Amino Acid Disorders, Organic Acidurias, and Homocystinuria.
P2860

Ethylmalonic encephalopathy: clinical and biochemical observations

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http://www.wikidata.org/entity/Q28241624
description
2007 nî lūn-bûn
@nan
2007 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2007 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
2007年の論文
@ja
2007年論文
@yue
2007年論文
@zh-hant
2007年論文
@zh-hk
2007年論文
@zh-mo
2007年論文
@zh-tw
2007年论文
@wuu
name
Ethylmalonic encephalopathy: clinical and biochemical observations
@ast
Ethylmalonic encephalopathy: clinical and biochemical observations
@en
Ethylmalonic encephalopathy: clinical and biochemical observations
@nl
type
label
Ethylmalonic encephalopathy: clinical and biochemical observations
@ast
Ethylmalonic encephalopathy: clinical and biochemical observations
@en
Ethylmalonic encephalopathy: clinical and biochemical observations
@nl
prefLabel
Ethylmalonic encephalopathy: clinical and biochemical observations
@ast
Ethylmalonic encephalopathy: clinical and biochemical observations
@en
Ethylmalonic encephalopathy: clinical and biochemical observations
@nl
P1433
P1476
P2093
P304
P31
P356
P407
P433
P478
P50
P577
P698
P921
P356
P1433
P1476
Ethylmalonic encephalopathy: clinical and biochemical observations
@en
P2093
P304
P31
P356
P407
P433
P478
P50
P577
P698
P921