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Ethylmalonic encephalopathy

Known as: Syndrome of encephalopathy, petechiae, and ethylmalonic aciduria, Epema Syndrome, EE 
National Institutes of Health

Related topics

Related topics

14 relations
Abnormality of extrapyramidal motor functionAtaxiaAutosomal recessive inheritanceChronic diarrhea

Broader (2)

Brain Diseases, Metabolic, InbornPurpura

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2020
Review
2020
Novel Compound Heterozygous Variants of ETHE1 Causing Ethylmalonic Encephalopathy in a Chinese Patient: A Case Report
Ethylmalonic encephalopathy (EE) is a very rare autosomal recessive metabolic disorder that primarily affects children. Less than… 
2017
2017
Neurological and Vascular Manifestations of Ethylmalonic Encephalopathy
Objective Ethylmalonic encephalopathy (EE) is a severe mitochondrial disease of early infancy clinically characterized by a… 
2017
2017
Cobalamin disorder CblC presenting with hemolytic uremic syndrome and pulmonary hypertension.
2016
2016
Successful treatment of a patient with ethylmalonic encephalopathy by intravenous N-acetylcysteine
Ethylmalonic encephalopathy (EE) is an autosomal recessive devastating metabolic disorder affecting the brain, gastrointestinal… 
2014
2014
Ethylmalonic Encephalopathy ETHE1 R163W/R163Q Mutations Alter Protein Stability and Redox Properties of the Iron Centre
ETHE1 is an iron-containing protein from the metallo β-lactamase family involved in the mitochondrial sulfide oxidation pathway… 
2010
2010
Novel ETHE1 mutation in a carrier couple having prior offspring affected with ethylmalonic encephalopathy: Genetic analysis, clinical management and reproductive outcome.
Ethylmalonic encephalopathy (EE) is an autosomally recessive inherited disorder with a relentlessly progressive decline in… 
2009
2009
Schistosomicidal Evaluation of Zanthoxylum naranjillo and its Isolated Compounds against Schistosoma mansoni Adult Worms
Chemical investigation of the EtOAc fraction (EF) obtained from the ethanolic extract of Zanthoxylum naranjillo (Rutaceae) leaves… 
2009
2009
Chronic early postnatal administration of ethylmalonic acid to rats causes behavioral deficit
2004
2004
Brain mitochondrial impairment in ethylmalonic encephalopathy
Sirs: Ethylmalonic encephalopathy (EE) is a rare autosomal recessive metabolic disorder that is clinically characterized by… 
1998
1998
Ethylmalonic and methylsuccinic aciduria in ethylmalonic encephalopathy arise from abnormal isoleucine metabolism.
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