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Hereditary fructose intolerance

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Review Articles from PubMed

Review articles summarize what is currently known about a disease. They discuss research previously published by others. The terms "Hereditary fructose intolerance" returned 2 free, full-text review articles. First 2 results:
Recent advances in the pathogenesis of hereditary fructose intolerance: implications for its treatment and the understanding of fructose-induced non-alcoholic fatty liver disease.
Last Updated: May 08, 2020

Hereditary fructose intolerance (HFI) is a rare inborn disease characterized by a deficiency in aldolase B, which catalyzes the cleavage of fructose 1,6-bisphosphate and fructose 1-phosphate (Fru 1P) to triose molecules. In patients with HFI, ingestion of fructose results in accumulation ...

Hereditary fructose intolerance mimicking a biochemical phenotype of mucolipidosis: A review of the literature of secondary causes of lysosomal enzyme activity elevation in serum.
Last Updated: Sep 28, 2020

We describe a patient with failure to thrive, hepatomegaly, liver dysfunction, and elevation of multiple plasma lysosomal enzyme activities mimicking mucolipidosis II or III, in whom a diagnosis of hereditary fructose intolerance (HFI) was ultimately obtained. She presented before ...

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2 Free Review Articles 7 Review Articles

Editorials from PubMed

Editorial articles describe the outcome of a single study. They are the published results of original research. The terms "Hereditary fructose intolerance" returned 0 free, full-text editorial articles. First 0 results:
No publications were found for this category.
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Research Articles from PubMed

Research articles describe the outcome of a single study. They are the published results of original research. The terms "Hereditary fructose intolerance" returned 32 free, full-text research articles. First few results:
Pitfalls in the Diagnosis of Hereditary Fructose Intolerance.
Last Updated: Sep 14, 2020

Establishing the diagnosis of hereditary fructose intolerance (HFI) remains difficult despite the availability of specific molecular genetic testing of the gene. This is attributable, at least in part, to the lack of a specific and practical biomarker. We report the incidental diagnosis ...

Daily Fructose Traces Intake and Liver Injury in Children with Hereditary Fructose Intolerance.
Last Updated: Mar 04, 2020

Hereditary fructose intolerance (HFI) is a rare genetic disorder of fructose metabolism due to aldolase B enzyme deficiency. Treatment consists of fructose, sorbitol, and sucrose (FSS)-free diet. We explore possible correlations between daily fructose traces intake and liver injury ...

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32 Free Research Articles 112 Research Articles