Ethylmalonic encephalopathy
Definition:
References:
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[1]. H R Yoon, et al. Therapeutic trial in the first three Asian cases of ethylmalonic encephalopathy: response to riboflavin. J Inherit Metab Dis. 2001 Dec;24(8):870-3. [Content Brief]
[2]. Maja Di Rocco, et al. A case of ethylmalonic encephalopathy with atypical clinical and biochemical presentation. Mol Genet Metab. 2006 Dec;89(4):395-7. [Content Brief]
[3]. Valeria Tiranti, et al. Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein. Am J Hum Genet. 2004 Feb;74(2):239-52. [Content Brief]
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