Associated Papers
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
An atypically mild case of ethylmalonic encephalopathy with pathogenic ETHE1 variant.
Kashima DT et al.
American Journal of Medical Genetics. Part A, 2023
Ethylmalonic encephalopathy: Clinical course and therapy response in an uncommon mild case with a severe ETHE1 mutation.
Ersoy M et al.
Molecular Genetics and Metabolism Reports, 2020
Severe early onset ethylmalonic encephalopathy with West syndrome.
Papetti L et al.
Metabolic Brain Disease, 2015
Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies.
Taylor RW et al.
Jama, 2014
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
ETHE1 mutations are specific to ethylmalonic encephalopathy.
Tiranti V et al.
Journal of Medical Genetics, 2006
Importance of acrocyanosis in delayed walking.
Yiş U et al.
Journal of Pediatric Neurosciences, 0
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