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GABA-transaminase deficiency – Genetics Home Reference

GABA-transaminase deficiency – Genetics Home Reference

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  • Besse A, Petersen AK, Hunter JV, Appadurai V, Lalani SR, Bonnen PE. Personalized medicine approach confirms a milder case of ABAT deficiency. Mol Brain. 2016 Dec 1;9(1):93.

  • Koenig MK, Hodgeman R, Riviello JJ, Chung W, Bain J, Chiriboga CA, Ichikawa K, Osaka H, Tsuji M, Gibson KM, Bonnen PE, Pearl PL. Phenotype of GABA-transaminase deficiency. Neurology. 2017 May 16;88(20):1919-1924. doi: 10.1212/WNL.0000000000003936. Epub 2017 Apr 14. Review.

  • Louro P, Ramos L, Robalo C, Cancelinha C, Dinis A, Veiga R, Pina R, Rebelo O, Pop A, Diogo L, Salomons GS, Garcia P. Phenotyping GABA transaminase deficiency: a case description and literature review. J Inherit Metab Dis. 2016 Sep;39(5):743-747. doi: 10.1007/s10545-016-9951-z. Epub 2016 Jul 4.

  • Medina-Kauwe LK, Tobin AJ, De Meirleir L, Jaeken J, Jakobs C, Nyhan WL, Gibson KM. 4-Aminobutyrate aminotransferase (GABA-transaminase) deficiency. J Inherit Metab Dis. 1999 Jun;22(4):414-27. Review.

  • Nagappa M, Bindu PS, Chiplunkar S, Govindaraj P, Narayanappa G, Krishnan A, Bharath MM, Swaminathan A, Saini J, Arvinda HR, Sinha S, Mathuranath PS, Taly AB. Hypersomnolence-hyperkinetic movement disorder in a child with compound heterozygous mutation in 4-aminobutyrate aminotransferase (ABAT) gene. Brain Dev. 2017 Feb;39(2):161-165. doi: 10.1016/j.braindev.2016.08.005. Epub 2016 Sep 3.

  • Pearl PL, Gibson KM. Clinical aspects of the disorders of GABA metabolism in children. Curr Opin Neurol. 2004 Apr;17(2):107-13. Review.

  • Pearl PL, Taylor JL, Trzcinski S, Sokohl A. The pediatric neurotransmitter disorders. J Child Neurol. 2007 May;22(5):606-16. Review.

  • Pearl PL, Wallis DD, Gibson KM. Pediatric neurotransmitter diseases. Curr Neurol Neurosci Rep. 2004 Mar;4(2):147-52. Review.

  • Tsuji M, Aida N, Obata T, Tomiyasu M, Furuya N, Kurosawa K, Errami A, Gibson KM, Salomons GS, Jakobs C, Osaka H. A new case of GABA transaminase deficiency facilitated by proton MR spectroscopy. J Inherit Metab Dis. 2010 Feb;33(1):85-90. doi: 10.1007/s10545-009-9022-9. Epub 2010 Jan 6.

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