Triose phosphate isomerase deficiency associated with two novel mutations in TPI gene
Author:
Publisher
Wiley
Subject
Hematology,General Medicine
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1600-0609.2010.01451.x/fullpdf
Reference21 articles.
1. Characterization of the functional gene and several processed pseudogenes in the human triosephosphate isomerase gene family;Brown;Mol Cell Biol,1995
2. Three hTIM mutants that provide new insights on why TIM is a dimer;Mainfroid;J Mol Biol,1996
3. A new erythrocyte enzyme defect with hemolytic anemia: triosephosphate isomerase (TPI) disease;Schneider;Blood,1964
4. Triosephosphate isomerase deficiency: historical perspectives and molecular aspects;Schneider;Baillieres Best Pract Res Clin Haematol,2000
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1. Neuromuscular dysfunction and pathogenesis in triosephosphate isomerase deficiency;Scientific Reports;2024-08-10
2. Confounding factors in the diagnosis and clinical course of rare congenital hemolytic anemias;Orphanet Journal of Rare Diseases;2021-10-09
3. Congenital Hemolytic Anemias: Is There a Role for the Immune System?;Frontiers in Immunology;2020-06-23
4. Differential effects on enzyme stability and kinetic parameters of mutants related to human triosephosphate isomerase deficiency;Biochimica et Biophysica Acta (BBA) - General Subjects;2018-06
5. Bone marrow transplantation corrects haemolytic anaemia in novel ENU mutagenesis mouse model of TPI deficiency;Disease Models & Mechanisms;2018-01-01
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