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1986 1
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2000 3
2002 2
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2005 1
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Page 1
Triosephosphate isomerase deficiency: Effect of F240L mutation on enzyme structure.
Romero JM. Romero JM. Arch Biochem Biophys. 2020 Aug 15;689:108473. doi: 10.1016/j.abb.2020.108473. Epub 2020 Jun 22. Arch Biochem Biophys. 2020. PMID: 32585311
Eleven missense mutations have been describe in human triosephosphate isomerase (TPI), affecting its catalytic function. Several of these mutations generate triosephosphate isomerase deficiency, the consequences of which can in some cases be lethal. ...
Eleven missense mutations have been describe in human triosephosphate isomerase (TPI), affecting its catalytic function. Several of these mu …
Triosephosphate-Isomerase Deficiency: Epiphenomenon or Cause of Loin Pain Haematuria Syndrome?
Schurek HJ, Maisel P, Helmchen U, Reusch B, Pekrun A. Schurek HJ, et al. Case Rep Nephrol Dial. 2022 Nov 11;12(3):226-233. doi: 10.1159/000527330. eCollection 2022 Sep-Dec. Case Rep Nephrol Dial. 2022. PMID: 36465576 Free PMC article.
The enzyme activities of the erythrocytes were predominantly normal or slightly increased; only the activity of triosephosphate isomerase, a critical key enzyme of glycolysis, was reduced to 71% (resp. 57%) of the normal level, compatible with a heterozygous carrier status that c …
The enzyme activities of the erythrocytes were predominantly normal or slightly increased; only the activity of triosephosphate isomerase, a …
Child Neurology: Triosephosphate isomerase deficiency.
Harris C, Nelson B, Farber D, Bickel S, Huxol H, Asamoah A, Morton R. Harris C, et al. Neurology. 2020 Dec 15;95(24):e3448-e3451. doi: 10.1212/WNL.0000000000010745. Epub 2020 Sep 1. Neurology. 2020. PMID: 32873690 No abstract available.
Murine model of triosephosphate isomerase deficiency with anemia and severe neuromuscular dysfunction.
Myers TD, Ferguson C, Gliniak E, Homanics GE, Palladino MJ. Myers TD, et al. Curr Res Neurobiol. 2022 Nov 9;3:100062. doi: 10.1016/j.crneur.2022.100062. eCollection 2022. Curr Res Neurobiol. 2022. PMID: 36405628 Free PMC article.
Triosephosphate isomerase deficiency (TPI Df) is a rare, aggressive genetic disease that typically affects young children and currently has no established treatment. ...
Triosephosphate isomerase deficiency (TPI Df) is a rare, aggressive genetic disease that typically affects young childr …
66 results