MEDICAL SCIENCEMolecular analysis of aldolase B genes in hereditary fructose intolerance
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Quality of life of adult patients with hereditary fructose intolerance
2023, Molecular Genetics and MetabolismKidney and vascular function in adult patients with hereditary fructose intolerance
2020, Molecular Genetics and Metabolism ReportsCitation Excerpt :Hereditary fructose intolerance (HFI; OMIM# 229600) is an autosomal recessive metabolic disorder [1] with an estimated incidence of 1 in every 20,000 newborns [2].
Non-alcoholic fatty liver in hereditary fructose intolerance
2020, Clinical NutritionProtracted Diarrhea
2020, Pediatric Gastrointestinal and Liver Disease, Sixth EditionInborn Errors of Metabolism with Hepatopathy: Metabolism Defects of Galactose, Fructose, and Tyrosine
2018, Pediatric Clinics of North AmericaCitation Excerpt :The mode of inheritance for HFI is autosomal recessive. The incidence is estimated to be 1 in 20,000.26 There are 65 ALDOB mutations listed in the Human Gene Mutation Database; 30 of these are missense or nonsense mutations, 11 splicing substitutions, and 14 small deletions or small deletions or duplications.
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