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Article

Triosephosphate isomerase deficiency: historical perspectives and molecular aspects.

Bailliere's best practice & research. Clinical haematology - 1 Mar 2000

Schneider A S

Abstract excerpt

In this chapter, the original descriptions and pre-molecular studies of triosephosphate isomerase (TPI) deficiency are summarized, and the molecular aspects of the disease presented. The gene is well characterized, and several mutations have been described. Structure-function studies have led to an increased understanding of impaired catalysis. All kindreds that have been studied with the predominant Glu104Asp...

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Identifiers

PMID: 10916682
DOI: 10.1053/beha.2000.0061

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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