Clinical, genetic profile and therapy evaluation of 11 Chinese pediatric patients with Fanconi-Bickel syndrome

Clinical, genetic profile and therapy evaluation of 11 Chinese pediatric patients with Fanconi-Bickel syndrome

Abstract Background Fanconi-Bickel syndrome (FBS) is a rare autosomal recessive disorder characterized by impaired glucose and galactose utilization as well as proximal renal tubular dysfunction. Methods Clinical, biochemical, genetic, treatment, and follow-up data for 11 pediatric patients with FBS...

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Bibliographic Details
Main Authors: Taozi Du, Yu Xia, Chengkai Sun, Zhuwen Gong, Lili Liang, Zizhen Gong, Ruifang Wang, Deyun Lu, Kaichuang Zhang, Yi Yang, Yuning Sun, Manqing Sun, Yu Sun, Bing Xiao, Wenjuan Qiu
Format: Article
Language:English
Published: BMC 2024-02-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Fanconi-Bickel syndrome
SLC2A2
Glucose transporter protein 2
Variant
Regions of homozygosity
Online Access:https://doi.org/10.1186/s13023-024-03070-8

Internet

https://doi.org/10.1186/s13023-024-03070-8

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