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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Detalhes bibliográficos

Principais autores:	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
Formato:	Artigo
Idioma:	Inglês
Publicado em:	BMC 2024-02-01
coleção:	Orphanet Journal of Rare Diseases
Assuntos:	Fanconi-Bickel syndrome SLC2A2 Glucose transporter protein 2 Variant Regions of homozygosity
Acesso em linha:	https://doi.org/10.1186/s13023-024-03070-8
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