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名词信息
中 文 名:
丙糖磷酸异构酶缺乏症
英 文 名:
triose phosphate isomerase deficiency
中文又称:
中文曾称:
名词来源:
所属专业:
血液科
所属类别:
疾病诊断名词
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Pubmed相关的文献
triose phosphate isomerase deficiency
相关文献:
[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). doi: 10.1684/abc.2023.1789.
PMID:36866814
Triose-phosphate isomerase deficiency is associated with a dysregulation of synaptic vesicle recycling in Drosophila melanogaster.
Stone A, Cujic O, Rowlett A, Aderhold S, Savage E, Graham B, Steinert JR.
Front Synaptic Neurosci. 2023 Feb 28;15:1124061. doi: 10.3389/fnsyn.2023.1124061. eCollection 2023.
PMID:36926383
Triose phosphate isomerase deficiency.
Skala H, Dreyfus JC, Vives-Corrons JL, Matsumoto F, Beutler E.
Biochem Med. 1977 Oct;18(2):226-34. doi: 10.1016/0006-2944(77)90094-1.
PMID:907660
A High-Content Screening Assay for Small Molecules That Stabilize Mutant Triose Phosphate Isomerase (TPI) as Treatments for TPI Deficiency.
Vogt A, Eicher SL, Myers TD, Hrizo SL, Vollmer LL, Meyer EM, Palladino MJ.
SLAS Discov. 2021 Sep;26(8):1029-1039. doi: 10.1177/24725552211018198. Epub 2021 Jun 24.
PMID:34167376
Human triose-phosphate isomerase deficiency: a single amino acid substitution results in a thermolabile enzyme.
Daar IO, Artymiuk PJ, Phillips DC, Maquat LE.
Proc Natl Acad Sci U S A. 1986 Oct;83(20):7903-7. doi: 10.1073/pnas.83.20.7903.
PMID:2876430
Triose phosphate isomerase deficiency: prenatal diagnosis.
Clark AC, Szobolotzky MA.
J Pediatr. 1985 Mar;106(3):417-20. doi: 10.1016/s0022-3476(85)80667-3.
PMID:3973779
Metabolic correction of triose phosphate isomerase deficiency in vitro by complementation.
Ationu A, Humphries A, Bellingham A, Layton M.
Biochem Biophys Res Commun. 1997 Mar 17;232(2):528-31. doi: 10.1006/bbrc.1997.6316.
PMID:9125215
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. doi: 10.1212/WNL.0000000000010745. Epub 2020 Sep 1.
PMID:32873690
Triose phosphate isomerase deficiency is caused by altered dimerization--not catalytic inactivity--of the mutant enzymes.
Ralser M, Heeren G, Breitenbach M, Lehrach H, Krobitsch S.
PLoS One. 2006 Dec 20;1(1):e30. doi: 10.1371/journal.pone.0000030.
PMID:17183658
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;60(6):289-298. doi: 10.1016/j.ejmg.2017.03.008. Epub 2017 Mar 21.
PMID:28341520
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