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Results 1 - 3 of 3 for "3-methylglutaconic" aciduria type 1
  1. AUH gene 
    ... in the AUH gene cause 3-methylglutaconic aciduria type I. Hum Mutat. 2003 ... new? J Inherit Metab Dis. 2012 Jan;35(1):13-22. doi: 10.1007/s10545-010-9210- ...
    https://medlineplus.gov/genetics/gene/auh - Genetics
  2. SERAC1 gene 
    ... of SERAC1 PubMed ... is a cardinal feature of MEGDEL syndrome (3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like ...
    https://medlineplus.gov/genetics/gene/serac1 - Genetics
  3. 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