Associated Papers
Mitochondrial Unfolded Protein Response (mtUPR) Activation Improves Pathological Alterations in Cellular Models of Ethylmalonic Encephalopathy.
Romero-Domínguez JM et al.
Antioxidants (basel, Switzerland), 2025
Clinical and Genetic Spectrum of Patients With Mitochondrial Disease in a Pediatric Egyptian Cohort: Novel Variants and Phenotypic Expansion.
Hassaan HM et al.
American Journal of Medical Genetics. Part A, 2025
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 2025
Regional patterns of genetic variants in expanded carrier screening: a next-generation sequencing pilot study in Fujian Province, China.
Guo D et al.
Frontiers in Genetics, 2025
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 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
A case report of atypical ethylmalonic encephalopathy with peripheral neuropathy.
Wang GQ et al.
Cns Neuroscience & Therapeutics, 2023
A data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early-onset monogenic disorders in Indians.
Kausthubham N et al.
Human Mutation, 2021
Expanded carrier screening in Chinese patients seeking the help of assisted reproductive technology.
Xi Y et al.
Molecular Genetics & Genomic Medicine, 2020
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
[Clinical and genetic analysis of a case with atypical ethyl malonate encephalopathy].
Zhang K et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2018
Mechanism-based inhibition of human persulfide dioxygenase by γ-glutamyl-homocysteinyl-glycine.
Kabil O et al.
The Journal of Biological Chemistry, 2018
Ethylmalonic Encephalopathy in an Indian Boy.
Bijarnia-Mahay S et al.
Indian Pediatrics, 2016
Whole exome sequencing diagnosis of inborn errors of metabolism and other disorders in United Arab Emirates.
Al-Shamsi A et al.
Orphanet Journal of Rare Diseases, 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
Ethylmalonic encephalopathy ETHE1 R163W/R163Q mutations alter protein stability and redox properties of the iron centre.
Henriques BJ et al.
Plos One, 2014
Morphologic evidence of diffuse vascular damage in human and in the experimental model of ethylmalonic encephalopathy.
Giordano C et al.
Journal of Inherited Metabolic Disease, 2012
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
Ethylmalonic encephalopathy: phenotype-genotype description and review of its management.
Cardelo Autero N et al.
Neurologia, 0