Associated Papers
Fructose-1,6-bisphosphatase deficiency: estimation of prevalence in the Chinese population and analysis of genotype-phenotype association.
Ni Q et al.
Frontiers in Genetics, 2024
39036704 (PubMed )
Supplement: Table1.XLSX › Table_S1
A novel variant in the FBP1 gene causes fructose-1,6-bisphosphatase deficiency through increased ubiquitination.
Liang X et al.
Archives of Biochemistry and Biophysics, 2023
Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.
Cong PK et al.
Nature Communications, 2022
35618720 (PubMed )
Supplement: 41467_2022_30526_MOESM5_ESM.xlsx › Data_2
Fructose-1,6-bisphosphatase deficiency with confirmed molecular diagnosis. An important cause of hypoglycemia in children.
Salih RM et al.
Saudi Medical Journal, 2020
A Chinese Adult Patient with Fructose 1,6-bisphosphatase Deficiency.
Lu JR et al.
Chinese Medical Journal, 2017
Clinical and Molecular Characterization of Patients with Fructose 1,6-Bisphosphatase Deficiency.
Li N et al.
International Journal of Molecular Sciences, 2017
A summary of molecular genetic findings in fructose-1,6-bisphosphatase deficiency with a focus on a common long-range deletion and the role of MLPA analysis.
Santer R et al.
Orphanet Journal of Rare Diseases, 2016
Fructose 1,6-bisphosphatase deficiency: clinical, biochemical and genetic features in French patients.
Lebigot E et al.
Journal of Inherited Metabolic Disease, 2015
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