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Article

Estimation of hereditary fructose intolerance prevalence in the Chinese population.

Orphanet journal of rare diseases - 26 Aug 2022

Tang Meiling, Chen Xiang, Ni Qi, Lu Yulan, Wu Bingbing, Wang Huijun, Yin Zhaoqing, Zhou Wenhao, Dong Xinran

Abstract excerpt

BACKGROUND: Hereditary fructose intolerance (HFI) caused by aldolase B reduction or deficiency that results in fructose metabolism disorder. The disease prevalence in the Chinese population is unknown, which impedes the formulation of HFI screening and diagnosis strategies. MATERIALS AND METHODS: By searching a local cohort (Chinese Children's Rare Disease Genetic Testing Clinical Collaboration System, CCGT) and...

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Identifiers

PMID: 36028839
DOI: 10.1186/s13023-022-02487-3
PMCID: PMC9419342

Genes

ALDOB

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Source receipt: pubmed, retrieved 7 Sept 2026.

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