Associated Papers
Primary mitochondrial disorders and mimics: Insights from a large French cohort.
Rouzier C et al.
Annals of Clinical and Translational Neurology, 2024
Ethylmalonic Encephalopathy: a literature review and two new cases of mild phenotype.
Platt I et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2023
Novel Compound Heterozygous Variants of ETHE1 Causing Ethylmalonic Encephalopathy in a Chinese Patient: A Case Report.
Chen X et al.
Frontiers in Genetics, 2020
Mechanism-based inhibition of human persulfide dioxygenase by γ-glutamyl-homocysteinyl-glycine.
Kabil O et al.
The Journal of Biological Chemistry, 2018
Targeted next generation sequencing with an extended gene panel does not impact variant detection in mitochondrial diseases.
Plutino M et al.
Bmc Medical Genetics, 2018
Successful treatment of a patient with ethylmalonic encephalopathy by intravenous N-acetylcysteine.
Kılıç M et al.
Metabolic Brain Disease, 2017
Severe early onset ethylmalonic encephalopathy with West syndrome.
Papetti L et al.
Metabolic Brain Disease, 2015
MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.
Fukasawa Y et al.
Molecular & Cellular Proteomics : Mcp, 2015
Ethylmalonic encephalopathy: application of improved biochemical and molecular diagnostic approaches.
Drousiotou A et al.
Clinical Genetics, 2011
Clinical heterogeneity in ethylmalonic encephalopathy.
Pigeon N et al.
Journal of Child Neurology, 2009
Identification of new mutations in the ETHE1 gene in a cohort of 14 patients presenting with ethylmalonic encephalopathy.
Mineri R et al.
Journal of Medical Genetics, 2008
A case of ethylmalonic encephalopathy with atypical clinical and biochemical presentation.
Di Rocco M et al.
Molecular Genetics and Metabolism, 2006
ETHE1 mutations are specific to ethylmalonic encephalopathy.
Tiranti V et al.
Journal of Medical Genetics, 2006
Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein.
Tiranti V et al.
American Journal of Human Genetics, 2004