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
The First Reported Albanian Patient With Fructose-1,6-Bisphosphatase Deficiency: A Rare Disorder of Fructose Metabolism.
Cullufi P et al.
Case Reports in Medicine, 2025
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
Identification of genotype-biochemical phenotype correlations associated with fructose 1,6-bisphosphatase deficiency.
Sakuma I et al.
Communications Biology, 2023
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
Fructose-1,6-bisphosphatase deficiency causes fatty liver disease and requires long-term hepatic follow-up.
Gorce M et al.
Journal of Inherited Metabolic Disease, 2022
A novel variant of fructose-1,6-bisphosphatase gene identified in an adult with newly diagnosed hepatitis C.
Fawdry H et al.
Jimd Reports, 2022
Novel Mutation with Fructose-1,6-Bisphosphatase Deficiency.
Samprathi M et al.
Indian Journal of Pediatrics, 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
Genomic testing in 1019 individuals from 349 Pakistani families results in high diagnostic yield and clinical utility.
Cheema H et al.
Npj Genomic Medicine, 2020
Exon 2 deletion represents a common mutation in Turkish patients with fructose-1,6-bisphosphatase deficiency.
Kılıç M et al.
Metabolic Brain Disease, 2019
Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.
Fragoza R et al.
Nature Communications, 2019
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
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
Pitfall in the Diagnosis of Fructose-1,6-Bisphosphatase Deficiency: Difficulty in Detecting Glycerol-3-Phosphate with Solvent Extraction in Urinary GC/MS Analysis.
Kato S et al.
The Tohoku Journal of Experimental Medicine, 2015
Transient pseudo-hypertriglyceridemia: a useful biochemical marker of fructose-1,6-bisphosphatase deficiency.
Afroze B et al.
European Journal of Pediatrics, 2013
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
Metabolic Liver Diseases Presenting as Pediatric Onset Hypoglycemia: A Hepatologist's Primer.
Verma S et al.
Journal of Clinical and Experimental Hepatology, 0