Nonketotic hyperglycinemia – Genetics Home Reference

By Julie R. Ball 4 years ago

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  • 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 foundation of common nonketotic hyperglycinemia due to mutations in GLDC and AMT. Genet Med. 2017 Jan19(1):104-111. doi: 10.1038/gim.2016.seventy four. Epub 2016 Jun 30. Erratum in: Genet Med. 2018 Jan 04:.

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

  • Stence NV, Fenton LZ, Levek C, Tong S, Coughlin CR 2nd, Hennermann JB, Wortmann SB, Van Hove JLK. Mind imaging in common nonketotic hyperglycinemia: Quantitative investigation and relation to phenotype. J Inherit Metab Dis. 2019 May42(3):438-450. doi: 10.1002/jimd.12072. Epub 2019 Mar 20.

  • 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(3):505.

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