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  1. Dec 2022
  2. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Inborn errors of creatine metabolism and epilepsy: clinical features, diagnosis, and treatment
    1
    1. DrewSturgill 10 Dec 2022
      Inborn errors of creatine metabolism and epilepsy: clinical features, diagnosis, and treatment

      PMID: 12597058

      Gene: GAMT

      Disease:GAMT deficiency

      Inheritance:Autosomal Recessive

      General: Insufficient evidenceGene:GAMT, HGNC:4136
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    pubmed.ncbi.nlm.nih.gov/12597058/