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Journal Abstract Search

180 related items for PubMed ID: 21215915

  • 1. Triosephosphate isomerase deficiency: a patient with Val231Met mutation.
    Serdaroglu G, Aydinok Y, Yilmaz S, Manco L, Ozer E.
    Pediatr Neurol; 2011 Feb; 44(2):139-42. PubMed ID: 21215915
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  • 7. Triosephosphate isomerase deficiency: Effect of F240L mutation on enzyme structure.
    Romero JM.
    Arch Biochem Biophys; 2020 Aug 15; 689():108473. PubMed ID: 32585311
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  • 8. Triosephosphate isomerase deficiency with elevated sweat chloride test: report of a case.
    Yenicesu I, Kalayci O, Semizel E, Kavak U, Gümrük F, Ferec C, Beutler E.
    Turk J Pediatr; 2000 Aug 15; 42(4):319-21. PubMed ID: 11196750
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  • 9. Missense variant in TPI1 (Arg189Gln) causes neurologic deficits through structural changes in the triosephosphate isomerase catalytic site and reduced enzyme levels in vivo.
    Roland BP, Richards KR, Hrizo SL, Eicher S, Barile ZJ, Chang TC, Savon G, Bianchi P, Fermo E, Ricerca BM, Tortorolo L, Vockley J, VanDemark AP, Palladino MJ.
    Biochim Biophys Acta Mol Basis Dis; 2019 Sep 01; 1865(9):2257-2266. PubMed ID: 31075491
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  • 10. Child Neurology: Triosephosphate isomerase deficiency.
    Harris C, Nelson B, Farber D, Bickel S, Huxol H, Asamoah A, Morton R.
    Neurology; 2020 Dec 15; 95(24):e3448-e3451. PubMed ID: 32873690
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  • 11. Differential effects on enzyme stability and kinetic parameters of mutants related to human triosephosphate isomerase deficiency.
    Cabrera N, Torres-Larios A, García-Torres I, Enríquez-Flores S, Perez-Montfort R.
    Biochim Biophys Acta Gen Subj; 2018 Jun 15; 1862(6):1401-1409. PubMed ID: 29571745
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  • 15. Structural and Genetic Studies Demonstrate Neurologic Dysfunction in Triosephosphate Isomerase Deficiency Is Associated with Impaired Synaptic Vesicle Dynamics.
    Roland BP, Zeccola AM, Larsen SB, Amrich CG, Talsma AD, Stuchul KA, Heroux A, Levitan ES, VanDemark AP, Palladino MJ.
    PLoS Genet; 2016 Mar 15; 12(3):e1005941. PubMed ID: 27031109
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  • 18. Towards enzyme-replacement treatment in triosephosphate isomerase deficiency.
    Ationu A, Humphries A, Wild B, Carr T, Will A, Arya R, Layton DM.
    Lancet; 1999 Apr 03; 353(9159):1155-6. PubMed ID: 10209987
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  • 19. Mild hemolytic anemia, progressive neuromotor retardation and fatal outcome: a disorder of glycolysis, triose- phosphate isomerase deficiency.
    Sarper N, Zengin E, Jakobs C, Salomons GS, Mc Wamelink M, Ralser M, Kurt K, Kara B.
    Turk J Pediatr; 2013 Apr 03; 55(2):198-202. PubMed ID: 24192681
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