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Results 1 - 3 of 3 for "3-Methylglutaconic" aciduria type 3
  1. AUH gene 
    ... Ruiter JP, Duran M, Lehnert W, Wanders RJ. 3-Methylglutaconic aciduria type I is caused by mutations in AUH. Am ... Zschocke J. Mutations in the AUH gene cause 3-methylglutaconic aciduria type I. Hum Mutat. 2003 Apr;21(4):401- ...
    https://medlineplus.gov/genetics/gene/auh - Genetics
  2. OPA3 gene 
    ... B, Gahl WA, Anikster Y. OPA3, mutated in 3-methylglutaconic aciduria type III, encodes two transcripts targeted primarily to mitochondria. ...
    https://medlineplus.gov/genetics/gene/opa3 - Genetics
  3. SERAC1 gene 
    ... 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 Med Genet A. 2013 ... a patient with 3-methylglutaconic aciduria. Mol Genet Metab. 2013 Sep-Oct;110( ...
    https://medlineplus.gov/genetics/gene/serac1 - Genetics