Articles with "isomerase deficiency" as a keyword



[Triose phosphate isomerase deficiency: a rare erythrocyte enzymopathy with a poor prognosis].

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Published in 2023 at "Annales de biologie clinique"

DOI: 10.1684/abc.2023.1789

Abstract: Triose phosphate isomerase (TPI) is a crucial enzyme for glycolysis. TPI deficiency is an autosomal recessive metabolic disease described in 1965, which remains exceptional by its rarity (less than 100 cases described worldwide), but by… read more here.

Keywords: isomerase deficiency; phosphate isomerase; triose phosphate;