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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…
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Keywords:
isomerase deficiency;
phosphate isomerase;
triose phosphate;