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Arginine: Glycine Amidinotransferase Deficiency (AGAT Deficiency)
Arginine: Glycine Amidinotransferase Deficiency (AGAT Deficiency) References
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Item CB, Stockler-Ipsiroglu S, Stromberger C, Muhl A, Alessandri MG, Bianchi MC, Tosetti M, Fornai F, Cioni G: Arginine:glycine amidinotransferase deficiency: the third inborn error of creatine metabolism in humans. Am J Hum Genet. 2001 Nov;69(5):1127-33. doi: 10.1086/323765. Epub 2001 Sep 10.
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Verma A: Arginine:glycine amidinotransferase deficiency: a treatable metabolic encephalomyopathy. Neurology. 2010 Jul 13;75(2):186-8. doi: 10.1212/WNL.0b013e3181e7cabd.
Battini R, Alessandri MG, Casalini C, Casarano M, Tosetti M, Cioni G: Fifteen-year follow-up of Italian families affected by arginine glycine amidinotransferase deficiency. Orphanet J Rare Dis. 2017 Feb 2;12(1):21. doi: 10.1186/s13023-017-0577-5.
Arginine and Proline Metabolism References
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