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Triose phosphate-isomerase deficiency

Deficiency of phosphotriose isomeraseDeficiency of triosephosphate mutaseTPI - Thiose phosphate isomerase deficiencyTriosephosphate isomerase deficiencyTPID; Triose phosphate isomerase deficiency
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Review Articles from PubMed

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Editorial articles describe the outcome of a single study. They are the published results of original research. The terms "Triose phosphate-isomerase deficiency" returned 0 free, full-text editorial articles. First 0 results:
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Research Articles from PubMed

Research articles describe the outcome of a single study. They are the published results of original research. The terms "Triose phosphate-isomerase deficiency" returned 3 free, full-text research articles. First few results:
In silico prediction of the effects of mutations in the human triose phosphate isomerase gene: Towards a predictive framework for TPI deficiency.
Last Updated: Aug 07, 2017

Triose phosphate isomerase (TPI) deficiency is a rare, but highly debilitating, inherited metabolic disease. Almost all patients suffer severe neurological effects and the most severely affected are unlikely to live beyond early childhood. Here, we describe an in silico study into ...

Triose phosphate isomerase deficiency associated with two novel mutations in TPI gene.
Last Updated: Jul 28, 2010

We report the clinical, haematological and molecular characteristics of two triose phosphate isomerase deficient patients affected by haemolytic anaemia and neuromuscular impairment. The sequence of complete TPI gene showed the presence of two previously undescribed mutations: c.722 ...

Triose phosphate isomerase deficiency is caused by altered dimerization--not catalytic inactivity--of the mutant enzymes.
Last Updated: Nov 13, 2018

Triosephosphate isomerase (TPI) deficiency is an autosomal recessive disorder caused by various mutations in the gene encoding the key glycolytic enzyme TPI. A drastic decrease in TPI activity and an increased level of its substrate, dihydroxyacetone phosphate, have been measured ...

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