Associated Papers
Intrafamilial phenotypic variability due to a missense pathogenic variant in FBP1 gene.
Dalili S et al.
Molecular Genetics and Metabolism Reports, 2024
Infantile Fructose-1,6-Bisphosphatase Deficiency Masquerading as Mitochondriopathy.
Chandrasekhar V et al.
Cureus, 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
39036704 (PubMed )
Supplement: Table1.XLSX › Table_S1
The fructose-1,6-bisphosphatase deficiency and the p.(Lys204ArgfsTer72) variant.
Pinheiro FC et al.
Genetics and Molecular Biology, 2021
Genetic Analysis of Tyrosinemia Type 1 and Fructose-1, 6 Bisphosphatase Deficiency Affected in Pakistani Cohorts.
Yasir Zahoor M et al.
Fetal and Pediatric Pathology, 2020
Clinical and molecular characterization of Indian patients with fructose-1, 6-bisphosphatase deficiency: Identification of a frequent variant (E281K).
Bhai P et al.
Annals of Human Genetics, 2018
Genetic analysis of fructose-1,6-bisphosphatase (FBPase) deficiency in nine consanguineous Pakistani families.
Ijaz S et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2017
Novel fructose bisphosphatase 1 gene mutation presenting as recurrent episodes of vomiting in an Indian child.
Sharma AG et al.
Journal of Postgraduate Medicine, 0
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