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Article

Epidemiological aspects of hereditary fructose intolerance: A database study.

Human mutation - 1 Dec 2021

Pinheiro Franciele C, Sperb-Ludwig Fernanda, Schwartz Ida V D

Abstract excerpt

Hereditary fructose intolerance (HFI) is an inborn error of fructose metabolism of autosomal recessive inheritance caused by pathogenic variants in the ALDOB gene that lead to aldolase B deficiency in the liver, kidneys, and intestine. Patients manifest symptoms, such as ketotic hypoglycemia, vomiting, nausea, in addition to hepatomegaly and other liver and kidney dysfunctions. The treatment consists of a...

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PMID: 34524712
DOI: 10.1002/humu.24282

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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