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Journal Abstract Search

210 related items for PubMed ID: 26371980

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  • 2. Comprehensive mutation analysis of GLDC, AMT, and GCSH in nonketotic hyperglycinemia.
    Kure S, Kato K, Dinopoulos A, Gail C, DeGrauw TJ, Christodoulou J, Bzduch V, Kalmanchey R, Fekete G, Trojovsky A, Plecko B, Breningstall G, Tohyama J, Aoki Y, Matsubara Y.
    Hum Mutat; 2006 Apr; 27(4):343-52. PubMed ID: 16450403
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  • 4. Two novel missense mutations in nonketotic hyperglycinemia.
    Yilmaz BS, Kor D, Ceylaner S, Mert GG, Incecik F, Kartal E, Mungan NO.
    J Child Neurol; 2015 May; 30(6):789-92. PubMed ID: 24838951
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  • 8. Early myoclonic encephalopathy and nonketotic hyperglycinemia.
    Rossi S, Daniele I, Bastrenta P, Mastrangelo M, Lista G.
    Pediatr Neurol; 2009 Nov; 41(5):371-4. PubMed ID: 19818941
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  • 13. The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT.
    Coughlin CR, 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.
    Genet Med; 2017 Jan; 19(1):104-111. PubMed ID: 27362913
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  • 15. Atypical variants of nonketotic hyperglycinemia.
    Dinopoulos A, Matsubara Y, Kure S.
    Mol Genet Metab; 2005 Jan; 86(1-2):61-9. PubMed ID: 16157495
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  • 16. Nonketotic hyperglycinemia: proposal of a diagnostic and treatment strategy.
    Suzuki Y, Kure S, Oota M, Hino H, Fukuda M.
    Pediatr Neurol; 2010 Sep; 43(3):221-4. PubMed ID: 20691948
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  • 17. [Clinical and molecular genetic study of nonketotic hyperglycinemia in a Chinese family].
    Gao ZJ, Jiang Q, Chen Q, Xu KM.
    Zhongguo Dang Dai Er Ke Za Zhi; 2017 Mar; 19(3):268-271. PubMed ID: 28302194
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  • 19. Genotypic and phenotypic features in Turkish patients with classic nonketotic hyperglycinemia.
    Bayrak H, Yıldız Y, Olgaç A, Kasapkara ÇS, Küçükcongar A, Zenciroğlu A, Yüksel D, Ceylaner S, Kılıç M.
    Metab Brain Dis; 2021 Aug; 36(6):1213-1222. PubMed ID: 33791923
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