30/10/2020

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Nonketotic hyperglycinemia – Genetics Home Reference

  • Aliefendioğlu D, Tana Aslan Ay, Coşkun T, Dursun A, Cakmak FN, Kesimer M. Transient nonketotic hyperglycinemia: two situation stories and literature evaluation. Pediatr Neurol. 2003 Feb28(two):151-five. Evaluation.

  • Applegarth DA, Toone JR. Glycine encephalopathy (nonketotic hyperglycinaemia) : evaluation and update. J Inherit Metab Dis. 200427(three):417-22. Evaluation.

  • Applegarth DA, Toone JR. Glycine encephalopathy (nonketotic hyperglycinemia): remarks and speculations. Am J Med Genet A. 2006 Jan 15140(two):186-8.

  • Coughlin CR 2nd, Swanson MA, Kronquist K, Acquaviva C, Hutchin T, Rodríguez-Pombo P, Väisänen ML, Spector E, Creadon-Swindell G, Brás-Goldberg AM, Rahikkala E, Moilanen JS, Mahieu V, Matthijs G, Bravo-Alonso I, Pérez-Cerdá C, Ugarte M, Vianey-Saban C, Scharer GH, Van Hove JL. The genetic basis of typical nonketotic hyperglycinemia due to mutations in GLDC and AMT. Genet Med. 2017 Jan19(1):104-111. doi: 10.1038/gim.2016.74. Epub 2016 Jun thirty. Erratum in: Genet Med. 2018 Jan 04:.

  • Dinopoulos A, Matsubara Y, Kure S. Atypical variants of nonketotic hyperglycinemia. Mol Genet Metab. 2005 Sep-Oct86(1-two):61-nine. Evaluation.

  • Hoover-Fong JE, Shah S, Van Hove JL, Applegarth D, Toone J, Hamosh A. Purely natural history of nonketotic hyperglycinemia in sixty five sufferers. Neurology. 2004 Nov 2363(10):1847-53.

  • Kikuchi G, Motokawa Y, Yoshida T, Hiraga K. Glycine cleavage program: response mechanism, physiological importance, and hyperglycinemia. Proc Jpn Acad Ser B Phys Biol Sci. 200884(seven):246-63. Evaluation.

  • Stence NV, Fenton LZ, Levek C, Tong S, Coughlin CR 2nd, Hennermann JB, Wortmann SB, Van Hove JLK. Mind imaging in typical nonketotic hyperglycinemia: Quantitative evaluation and relation to phenotype. J Inherit Metab Dis. 2019 May42(three):438-450. doi: 10.1002/jimd.12072. Epub 2019 Mar twenty.

  • Swanson MA, Coughlin CR Jr, Scharer GH, Szerlong HJ, Bjoraker KJ, Spector EB, Creadon-Swindell G, Mahieu V, Matthijs G, Hennermann JB, Applegarth DA, Toone JR, Tong S, Williams K, Van Hove JL. Biochemical and molecular predictors for prognosis in nonketotic hyperglycinemia. Ann Neurol. 2015 Oct78(4):606-18. doi: 10.1002/ana.24485. Epub 2015 Aug 10. Erratum in: Ann Neurol. 2016 Mar79(three):505.

  • Van Hove J, Coughlin C II, Scharer G. Glycine Encephalopathy. 2002 Nov 14 [updated 2013 Jul eleven]. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [World-wide-web]. Seattle (WA): University of Washington, Seattle 1993-2017. Readily available from http://www.ncbi.nlm.nih.gov/guides/NBK1357/