Associated Papers
Clinical and molecular characterization of 14 Egyptian children with fructose-1,6-bisphosphatase deficiency.
Magdy RM et al.
Italian Journal of Pediatrics, 2025
Intrafamilial phenotypic variability due to a missense pathogenic variant in FBP1 gene.
Dalili S et al.
Molecular Genetics and Metabolism Reports, 2024
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
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
The fructose-1,6-bisphosphatase deficiency and the p.(Lys204ArgfsTer72) variant.
Pinheiro FC et al.
Genetics and Molecular Biology, 2021
Exon 2 deletion represents a common mutation in Turkish patients with fructose-1,6-bisphosphatase deficiency.
Kılıç M et al.
Metabolic Brain Disease, 2019
Genetic analysis of patients with fructose-1,6-bisphosphatase deficiency.
Pinheiro FC et al.
Gene, 2019
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