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Journal Abstract Search

116 related items for PubMed ID: 20197121

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  • 4. Five novel SUCLG1 mutations in three Chinese patients with succinate-CoA ligase deficiency noticed by mild methylmalonic aciduria.
    Liu Y, Li X, Wang Q, Ding Y, Song J, Yang Y.
    Brain Dev; 2016 Jan; 38(1):61-7. PubMed ID: 26028457
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  • 6. [Clinical and laboratory studies on four Chinese patients with succinate-CoA ligase deficiency noticed by mild methylmalonic aciduria].
    Liu YP, Li XY, Ding Y, Wang Q, Song JQ, Zhang Y, Li DX, Qin YP, Yang YL.
    Zhonghua Er Ke Za Zhi; 2016 May; 54(5):365-9. PubMed ID: 27143079
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  • 7. Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients.
    Carrozzo R, Verrigni D, Rasmussen M, de Coo R, Amartino H, Bianchi M, Buhas D, Mesli S, Naess K, Born AP, Woldseth B, Prontera P, Batbayli M, Ravn K, Joensen F, Cordelli DM, Santorelli FM, Tulinius M, Darin N, Duno M, Jouvencel P, Burlina A, Stangoni G, Bertini E, Redonnet-Vernhet I, Wibrand F, Dionisi-Vici C, Uusimaa J, Vieira P, Osorio AN, McFarland R, Taylor RW, Holme E, Ostergaard E.
    J Inherit Metab Dis; 2016 Mar; 39(2):243-52. PubMed ID: 26475597
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  • 9. Expanding the phenotypic spectrum of Succinyl-CoA ligase deficiency through functional validation of a new SUCLG1 variant.
    Donti TR, Masand R, Scott DA, Craigen WJ, Graham BH.
    Mol Genet Metab; 2016 Sep; 119(1-2):68-74. PubMed ID: 27484306
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  • 11. A novel SUCLA2 mutation in a Portuguese child associated with "mild" methylmalonic aciduria.
    Nogueira C, Meschini MC, Nesti C, Garcia P, Diogo L, Valongo C, Costa R, Videira A, Vilarinho L, Santorelli FM.
    J Child Neurol; 2015 Feb; 30(2):228-32. PubMed ID: 24659738
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  • 13. Novel compound heterozygous SUCLG1 variants may contribute to mitochondria DNA depletion syndrome-9.
    Chen YM, Chen W, Xu Y, Lu CS, Zhu MM, Sun RY, Wang Y, Chen Y, Shi J, Wang D.
    Mol Genet Genomic Med; 2022 Sep; 10(9):e2010. PubMed ID: 35762302
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  • 14. [Abnormal findings during newborn period of 160 patients with early-onset methylmalonic aciduria].
    Liu YP, Ma YY, Wu TF, Wang Q, Li XY, Ding Y, Song JQ, Huang Y, Yang YL.
    Zhonghua Er Ke Za Zhi; 2012 Jun; 50(6):410-4. PubMed ID: 22931934
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  • 19. Disorders caused by deficiency of succinate-CoA ligase.
    Ostergaard E.
    J Inherit Metab Dis; 2008 Apr; 31(2):226-9. PubMed ID: 18392745
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