Associated Papers
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
39036704 (PubMed )
Supplement: Table1.XLSX › Table_S1
Identification of genotype-biochemical phenotype correlations associated with fructose 1,6-bisphosphatase deficiency.
Sakuma I et al.
Communications Biology, 2023
Exon 2 deletion represents a common mutation in Turkish patients with fructose-1,6-bisphosphatase deficiency.
Kılıç M et al.
Metabolic Brain Disease, 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
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
Novel fructose-1,6-bisphosphatase gene mutation in two siblings.
Eren E et al.
Dna and Cell Biology, 2013
Transient pseudo-hypertriglyceridemia: a useful biochemical marker of fructose-1,6-bisphosphatase deficiency.
Afroze B et al.
European Journal of Pediatrics, 2013
Fructose 1,6-bisphosphatase deficiency: enzyme and mutation analysis performed on calcitriol-stimulated monocytes with a note on long-term prognosis.
Åsberg C et al.
Journal of Inherited Metabolic Disease, 2010
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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