ArticleJournal of clinical medicine2021
Transferrin Isoforms, Old but New Biomarkers in Hereditary Fructose Intolerance.
Article in Journal of clinical medicine, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed, 12 citations in OpenAlex.
- Dietary Patterns in a Nationwide Cohort of Patients with Hereditary Fructose Intolerance.Nutrients · 2026Article
- The role of the analysis of sialotransferrin isoforms in the management of hereditary fructose intolerance: a systematic review.Journal of diabetes and metabolic disorders · 2025Review
- Aldolase B Deficient Mice Are Characterized by Hepatic Nucleotide Sugar Abnormalities.Journal of inherited metabolic disease · 2025Article
- Development of tools to facilitate the diagnosis of hereditary fructose intolerance.JIMD reports · 2023Article
- Estimation of hereditary fructose intolerance prevalence in the Chinese population.Orphanet journal of rare diseases · 2022Review
- Hereditary fructose intolerance: A comprehensive review.World journal of clinical pediatrics · 2022Review
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Authors and funding
22 authors at 15 institutions in 1 country.
Funding
Abstract
Hereditary Fructose Intolerance (HFI) is an autosomal recessive inborn error of metabolism characterised by the deficiency of the hepatic enzyme aldolase B. Its treatment consists in adopting a fructose-, sucrose-, and sorbitol (FSS)-restrictive diet for life. Untreated HFI patients present an abnormal transferrin (Tf) glycosylation pattern due to the inhibition of mannose-6-phosphate isomerase by fructose-1-phosphate. Hence, elevated serum carbohydrate-deficient Tf (CDT) may allow the prompt detection of HFI. The CDT values improve when an FSS-restrictive diet is followed; however, previous data on CDT and fructose intake correlation are inconsistent. Therefore, we examined the complete serum sialoTf profile and correlated it with FSS dietary intake and with hepatic parameters in a cohort of paediatric and adult fructosemic patients. To do so, the profiles of serum sialoTf from genetically diagnosed HFI patients on an FSS-restricted diet (
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