Associated Papers
Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population.
Abolhassani A et al.
Npj Genomic Medicine, 2024
38374194 (PubMed )
Supplement: 41525_2024_393_MOESM3_ESM.xlsx › Supplementary_Table_8
Using metabolic abnormalities of carriers in the neonatal period to evaluate the pathogenicity of variants of uncertain significance in methylmalonic acidemia.
Xiao D et al.
Frontiers in Genetics, 2024
39076170 (PubMed )
Supplement: Table1.DOCX
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
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
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