Associated Papers
Leigh Syndrome: A Comprehensive Review of the Disease and Present and Future Treatments.
Magro G et al.
Biomedicines, 2025
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
Mitochondrial Disease and the Kidney With a Special Focus on CoQ10 Deficiency.
Schijvens AM et al.
Kidney International Reports, 2020
Severe early onset ethylmalonic encephalopathy with West syndrome.
Papetti L et al.
Metabolic Brain Disease, 2015
Ethylmalonic encephalopathy associated with crescentic glomerulonephritis.
Dweikat I et al.
Metabolic Brain Disease, 2012
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
Select a paper to view details