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
[A child with Fructose-1,6-bisphosphatase deficiency due to variant of FBP1 gene: Genetic and clinical analysis and literature review].
Liu Y et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2025
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 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
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
The fructose-1,6-bisphosphatase deficiency and the p.(Lys204ArgfsTer72) variant.
Pinheiro FC et al.
Genetics and Molecular Biology, 2021
Fructose-1,6-bisphosphatase deficiency with confirmed molecular diagnosis. An important cause of hypoglycemia in children.
Salih RM et al.
Saudi Medical Journal, 2020
Case Report: Characterization of a Novel NONO Intronic Mutation in a Fetus With X-Linked Syndromic Mental Retardation-34.
Sun H et al.
Frontiers in Genetics, 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
Status epilepticus due to fructose-1,6-bisphosphatase deficiency caused by FBP1 gene mutation.
Mei S et al.
Pediatric Investigation, 2019
Genetic analysis of patients with fructose-1,6-bisphosphatase deficiency.
Pinheiro FC et al.
Gene, 2019
Fructose-1,6-bisphosphatase deficiency presented with complex febrile convulsion.
Lee H et al.
Neuro Endocrinology Letters, 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
Fructose-1,6-bisphosphatase deficiency as a cause of recurrent hypoglycemia and metabolic acidosis: Clinical and molecular findings in Malaysian patients.
Moey LH et al.
Pediatrics and Neonatology, 2018
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
Fructose 1,6-bisphosphatase deficiency: clinical, biochemical and genetic features in French patients.
Lebigot E et al.
Journal of Inherited Metabolic Disease, 2015
Novel fructose-1,6-bisphosphatase gene mutation in two siblings.
Eren E et al.
Dna and Cell Biology, 2013
Fructose-1,6-bisphosphatase deficiency presenting with neonatal hyperlactatemia and elevated lactate-to-pyruvate ratio.
Naito S et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 0