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Journal Abstract Search

155 related items for PubMed ID: 36158497

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  • 3. Novel GLDC Compound Heterozygous Variant Leading to Nonketotic Hyperglycinemia: Case Report and Literature Review.
    Cao Y, Meng L, Zhang Y, Jiao J, Pu W, Ma L.
    Front Pediatr; 2021; 9():725930. PubMed ID: 34513771
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  • 4. Natural history and outcome of nonketotic hyperglycinemia in China.
    Zhou Z, Cai Y, Li X, Liu Z, Peng M, Lin Y, Mao X, Zeng C, Liu L, Zhang W.
    Front Neurol; 2024; 15():1440883. PubMed ID: 39206282
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  • 6. [Clinical and genetic analyses of a family with atypical nonketotic hyperglycinemia caused by compound heterozygous mutations in the GLDC gene].
    Jiang TJ, Jiang JJ, Xu JL, Zhen J, Jiang PF, Gao F.
    Zhongguo Dang Dai Er Ke Za Zhi; 2017 Oct; 19(10):1087-1091. PubMed ID: 29046206
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  • 7. Two Novel GLDC Mutations in a Neonate with Nonketotic Hyperglycinemia.
    Nickerson SL, Balasubramaniam S, Dryland PA, Love JM, Kava MP, Love DR, Prosser DO.
    J Pediatr Genet; 2016 Sep; 5(3):174-80. PubMed ID: 27617160
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  • 8. Nonketotic Hyperglycinemia: Insight into Current Therapies.
    Nowak M, Chuchra P, Paprocka J.
    J Clin Med; 2022 May 27; 11(11):. PubMed ID: 35683414
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  • 9. Ketogenic diet, a potentially valuable therapeutic option for the management of refractory epilepsy in classical neonatal nonketotic hyperglycinemia: a case report.
    Kava MP, Robertson A, Greed L, Balasubramaniam S.
    Eur J Clin Nutr; 2019 Jun 27; 73(6):961-965. PubMed ID: 30108280
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  • 10. [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 27; 19(3):268-271. PubMed ID: 28302194
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  • 11. AAV-mediated expression of mouse or human GLDC normalises metabolic biomarkers in a GLDC-deficient mouse model of Non-Ketotic Hyperglycinemia.
    Leung KY, Santos C, De Castro SCP, Diaz DG, Copp AJ, Waddington S, Greene NDE.
    Mol Genet Metab; 2024 Jul 27; 142(3):108496. PubMed ID: 38761651
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  • 12. A novel compound heterozygous variant identified in GLDC gene in a Chinese family with non-ketotic hyperglycinemia.
    Lin Y, Zheng Z, Sun W, Fu Q.
    BMC Med Genet; 2018 Jan 05; 19(1):5. PubMed ID: 29304759
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  • 13. Natural history of nonketotic hyperglycinemia in 65 patients.
    Hoover-Fong JE, Shah S, Van Hove JL, Applegarth D, Toone J, Hamosh A.
    Neurology; 2004 Nov 23; 63(10):1847-53. PubMed ID: 15557500
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  • 14. Ketogenic diet as a glycine lowering therapy in nonketotic hyperglycinemia and impact on brain glycine levels.
    Shelkowitz E, Saneto RP, Al-Hertani W, Lubout CMA, Stence NV, Brown MS, Long P, Walleigh D, Nelson JA, Perez FE, Shaw DWW, Michl EJ, Van Hove JLK.
    Orphanet J Rare Dis; 2022 Dec 05; 17(1):423. PubMed ID: 36471344
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  • 15. Atypical variants of nonketotic hyperglycinemia.
    Dinopoulos A, Matsubara Y, Kure S.
    Mol Genet Metab; 2005 Dec 05; 86(1-2):61-9. PubMed ID: 16157495
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  • 16. Two novel mutations in the glycine decarboxylase gene in a boy with classic nonketotic hyperglycinemia: case report.
    Liu S, Wang Z, Liang J, Chen N, OuYang H, Zeng W, Chen L, Xie X, Jiang J.
    Arch Argent Pediatr; 2017 Aug 01; 115(4):e225-e229. PubMed ID: 28737873
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  • 17. Homozygosity for disease-causing variants in AMT and GLDC in a patient with severe nonketotic hyperglycinemia.
    Drackley A, Peter M, Rathbun P, Ing A, Prada CE, Yap KL.
    Am J Med Genet A; 2024 Aug 01; 194(8):e63622. PubMed ID: 38572626
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  • 18. Brain imaging in classic nonketotic hyperglycinemia: Quantitative analysis and relation to phenotype.
    Stence NV, Fenton LZ, Levek C, Tong S, Coughlin CR, Hennermann JB, Wortmann SB, Van Hove JLK.
    J Inherit Metab Dis; 2019 May 01; 42(3):438-450. PubMed ID: 30737808
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  • 19. Case report: Unveiling genetic and phenotypic variability in Nonketotic hyperglycinemia: an atypical early onset case associated with a novel GLRX5 variant.
    Marin V, Lebreton L, Guibet C, Mesli S, Redonnet-Vernhet I, Dexant M, Lamireau D, Roche S, Gaschignard M, Delmas J, Margot H, Bar C.
    Front Genet; 2024 May 01; 15():1432272. PubMed ID: 39323869
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  • 20. Nonketotic Hyperglycinemia of Infants in Taiwan.
    Chiu CF, Lin JL, Lin JJ, Tseng MH, Lo FS, Chiang MC.
    Pediatr Neonatol; 2016 Oct 01; 57(5):420-426. PubMed ID: 26947380
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