Low catalytic activity is insufficient to induce disease pathology in triosephosphate isomerase deficiency

Triosephosphate isomerase (TPI) deficiency is a fatal genetic disorder characterized by hemolytic anemia and neurological dysfunction. Although the enzyme defect in TPI was discovered in the 1960s, the exact etiology of the disease is still debated. Some aspects indicate the disease could be caused...

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Detalhes bibliográficos
Publicado no:J Inherit Metab Dis
Main Authors: Segal, Joanna, Mülleder, Michael, Krüger, Antje, Adler, Thure, Scholze‐Wittler, Manuela, Becker, Lore, Calzada‐Wack, Julia, Garrett, Lillian, Hölter, Sabine M., Rathkolb, Birgit, Rozman, Jan, Racz, Ildiko, Fischer, Ralf, Busch, Dirk H., Neff, Frauke, Klingenspor, Martin, Klopstock, Thomas, Grüning, Nana‐Maria, Michel, Steve, Lukaszewska‐McGreal, Beata, Voigt, Ingo, Hartmann, Ludger, Timmermann, Bernd, Lehrach, Hans, Wolf, Eckhard, Wurst, Wolfgang, Gailus‐Durner, Valérie, Fuchs, Helmut, H. de Angelis, Martin, Schrewe, Heinrich, Yuneva, Mariia, Ralser, Markus
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley & Sons, Inc. 2019
Assuntos:
Original Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7887927/
https://ncbi.nlm.nih.gov/pubmed/31111503
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jimd.12105
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