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- W2018294108 abstract "Isoelectrofocusing of serum sialotransferrins from patients with untreated hereditary fructose intolerance (HFI) shows a cathodal shift similar to that in carbohydrate-deficient glycoprotein (CDG) syndrome type I and in untreated galactosemia. This report is on serum lysosomal enzyme abnormalities in untreated HFI that are identical to those found in CDG syndrome type I but different from those in untreated galactosemia. CDG syndrome type I is due to phosphomannomutase deficiency, a defect in the early glycosylation pathway. It was found that fructose 1-phosphate is a potent competitive inhibitor (Ki congruent to 40 microM) of phosphomannose isomerase (EC 5.3.1.8), the first enzyme of the N-glycosylation pathway thus explaining the N-glycosylation disturbances in HFI." @default.
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- W2018294108 title "Inhibition of Phosphomannose Isomerase by Fructose 1-Phosphate: An Explanation for Defective N-Glycosylation in Hereditary Fructose Intolerance" @default.
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- W2018294108 doi "https://doi.org/10.1203/00006450-199611000-00017" @default.
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