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"3-methylglutaconic" aciduria with "deafness," "encephalopathy," "Leigh-like" syndrome
Did you mean "3-methylglutaconic" aciduria with "deafness," "encephalopathy," "light-like" syndrome?
- ... hepatopathy is a cardinal feature of MEGDEL syndrome (3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome) caused by novel mutations in SERAC1. Am J ...