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
Incidence and genetic variants of inborn errors of metabolism identified through newborn screening: A 7-year study in eastern coastal areas of China.
Men S et al.
Molecular Genetics & Genomic Medicine, 2023
An atypically mild case of ethylmalonic encephalopathy with pathogenic ETHE1 variant.
Kashima DT et al.
American Journal of Medical Genetics. Part A, 2023
Acute Strokelike Presentation and Long-term Evolution of Diffusion Restriction Pattern in Ethylmalonic Encephalopathy.
Lim J et al.
Journal of Child Neurology, 2021
Ethylmalonic encephalopathy and liver transplantation: long-term outcome of the first treated patient.
Olivieri G et al.
Orphanet Journal of Rare Diseases, 2021
The role of exome sequencing in newborn screening for inborn errors of metabolism.
Adhikari AN et al.
Nature Medicine, 2020
Novel Compound Heterozygous Variants of ETHE1 Causing Ethylmalonic Encephalopathy in a Chinese Patient: A Case Report.
Chen X et al.
Frontiers in Genetics, 2020
Genomic testing in 1019 individuals from 349 Pakistani families results in high diagnostic yield and clinical utility.
Cheema H et al.
Npj Genomic Medicine, 2020
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
Improved clinical outcome following liver transplant in patients with ethylmalonic encephalopathy.
Tam A et al.
American Journal of Medical Genetics. Part A, 2019
Mechanism-based inhibition of human persulfide dioxygenase by γ-glutamyl-homocysteinyl-glycine.
Kabil O et al.
The Journal of Biological Chemistry, 2018
Turkish case of ethylmalonic encephalopathy misdiagnosed as short chain acyl-CoA dehydrogenase deficiency.
Bulut FD et al.
Metabolic Brain Disease, 2018
Neurological and Vascular Manifestations of Ethylmalonic Encephalopathy.
Tavasoli AR et al.
Iranian Journal of Child Neurology, 2017
Leigh syndrome: One disorder, more than 75 monogenic causes.
Lake NJ et al.
Annals of Neurology, 2016
Severe early onset ethylmalonic encephalopathy with West syndrome.
Papetti L et al.
Metabolic Brain Disease, 2015
Crystal structure of human persulfide dioxygenase: structural basis of ethylmalonic encephalopathy.
Pettinati I et al.
Human Molecular Genetics, 2015
MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.
Fukasawa Y et al.
Molecular & Cellular Proteomics : Mcp, 2015
Repository of mutations from Oman: The entry point to a national mutation database.
Rajab A et al.
F1000research, 2015
Ethylmalonic encephalopathy ETHE1 R163W/R163Q mutations alter protein stability and redox properties of the iron centre.
Henriques BJ et al.
Plos One, 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
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