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152 related items for PubMed ID: 24192681

  • 1. 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; 55(2):198-202. PubMed ID: 24192681
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  • 2. Hemolytic anemia and progressive neurologic impairment: think about triosephosphate isomerase deficiency.
    Aissa K, Kamoun F, Sfaihi L, Ghedira ES, Aloulou H, Kamoun T, Pissard S, Hachicha M.
    Fetal Pediatr Pathol; 2014 Aug; 33(4):234-8. PubMed ID: 24840153
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  • 4. [Triose phosphate isomerase deficiency: a rare erythrocyte enzymopathy with a poor prognosis].
    Julien M, Todosi C, Fouyssac F, Lesesve JF, Gérard D, Perrin J.
    Ann Biol Clin (Paris); 2023 Mar 15; 81(2):. PubMed ID: 36866814
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  • 5. Triosephosphate isomerase deficiency: a patient with Val231Met mutation.
    Serdaroglu G, Aydinok Y, Yilmaz S, Manco L, Ozer E.
    Pediatr Neurol; 2011 Feb 15; 44(2):139-42. PubMed ID: 21215915
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  • 11. Triosephosphate isomerase deficiency: facts and doubts.
    Orosz F, Oláh J, Ovádi J.
    IUBMB Life; 2006 Dec 15; 58(12):703-15. PubMed ID: 17424909
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  • 12. Generation and analysis of TPI deficiency zebrafish model.
    Sun P, Li Y, Liu F, Wang L.
    Yi Chuan; 2024 Mar 20; 46(3):232-241. PubMed ID: 38632101
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  • 13. Triose phosphate isomerase deficiency: prenatal diagnosis.
    Clark AC, Szobolotzky MA.
    J Pediatr; 1985 Mar 20; 106(3):417-20. PubMed ID: 3973779
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  • 15. In silico prediction of the effects of mutations in the human triose phosphate isomerase gene: Towards a predictive framework for TPI deficiency.
    Oliver C, Timson DJ.
    Eur J Med Genet; 2017 Jun 20; 60(6):289-298. PubMed ID: 28341520
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  • 19. 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 20; 12(3):e1005941. PubMed ID: 27031109
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  • 20. 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 Mar 20; 42(4):319-21. PubMed ID: 11196750
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