Associated Papers
Intrafamilial phenotypic variability due to a missense pathogenic variant in FBP1 gene.
Dalili S et al.
Molecular Genetics and Metabolism Reports, 2024
Identification of genotype-biochemical phenotype correlations associated with fructose 1,6-bisphosphatase deficiency.
Sakuma I et al.
Communications Biology, 2023
Human Metabolic Enzymes Deficiency: A Genetic Mutation Based Approach.
Chaturvedi S et al.
Scientifica, 2016
[Genetic diagnosis of fructose-1, 6-bisphosphatase deficiency: a case report].
Xu K et al.
Beijing Da Xue Xue Bao. Yi Xue Ban = Journal of Peking University. Health Sciences, 2014
Novel fructose-1,6-bisphosphatase gene mutation in two siblings.
Eren E et al.
Dna and Cell Biology, 2013
Mutation spectrum in patients with fructose-1,6-bisphosphatase deficiency.
Herzog B et al.
Journal of Inherited Metabolic Disease, 2001
Novel mutations in patients with fructose-1,6-bisphosphatase deficiency.
Herzog B et al.
Journal of Inherited Metabolic Disease, 1999
Identification of genetic mutations in Japanese patients with fructose-1,6-bisphosphatase deficiency.
Kikawa Y et al.
American Journal of Human Genetics, 1997
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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