Nonketotic hyperglycinemia - Genetics Home Reference

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  • Applegarth DA, Toone JR. Glycine encephalopathy (nonketotic hyperglycinemia): opinions and speculations. Am J Med Genet A. 2006 Jan 15140(2):186-eight.

  • 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 owing to mutations in GLDC and AMT. Genet Med. 2019 Jan19(1):104-111. doi: ten.1038/gim.2016.seventy four. Epub 2016 Jun thirty. Erratum in: Genet Med. 2020 Jan 04:.

  • Dinopoulos A, Matsubara Y, Kure S. Atypical variants of nonketotic hyperglycinemia. Mol Genet Metab. 2005 Sep-Oct86(1-2):sixty one-9. Evaluate.

  • Hoover-Fong JE, Shah S, Van Hove JL, Applegarth D, Toone J, Hamosh A. Normal heritage of nonketotic hyperglycinemia in sixty five people. Neurology. 2004 Nov 2363(ten):1847-53.

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  • 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 assessment and relation to phenotype. J Inherit Metab Dis. 2021 May42(three):438-450. doi: ten.1002/jimd.12072. Epub 2021 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-eighteen. doi: ten.1002/ana.24485. Epub 2015 Aug ten. Erratum in: Ann Neurol. 2016 Mar79(three):505.

  • Van Hove J, Coughlin C II, Scharer G. Glycine Encephalopathy. 2002 Nov 14 [current 2013 Jul eleven]. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Chook TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [World-wide-web]. Seattle (WA): College of Washington, Seattle 1993-2019. Obtainable from

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