Estimation of hereditary fructose intolerance prevalence in the Chinese population

Estimation of hereditary fructose intolerance prevalence in the Chinese population

Abstract 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 met...

Full description

Bibliographic Details
Main Authors: Meiling Tang, Xiang Chen, Qi Ni, Yulan Lu, Bingbing Wu, Huijun Wang, Zhaoqing Yin, Wenhao Zhou, Xinran Dong
Format: Article
Language:English
Published: BMC 2022-08-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Hereditary fructose intolerance
Prevalence estimation
Curation for pathogenic variants
Newborn screening
Allele frequency comparison
Online Access:https://doi.org/10.1186/s13023-022-02487-3

Internet

https://doi.org/10.1186/s13023-022-02487-3

Similar Items