Ethylmalonic encephalopathy: application of improved biochemical and molecular diagnostic approaches
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.2010.01457.x/fullpdf
Reference9 articles.
1. New clinical phenotype of branched-chain acyl-CoA oxidation defect;Burlina;Lancet,1991
2. Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein;Tiranti;Am J Hum Genet,2004
3. ETHE1 mutations are specific to ethylmalonic encephalopathy;Tiranti;J Med Genet,2006
4. Identification of new mutations in the ETHE1 gene in a cohort of 14 patients presenting with ethylmalonic encephalopathy;Mineri;J Med Genet,2008
5. Loss of ETHE1, a mitochondrial dioxygenase, causes fatal sulfide toxicity in ethylmalonic encephalopathy;Tiranti;Nat Med,2009
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