Associated Papers
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
40893834 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_1
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
Exon 2 deletion represents a common mutation in Turkish patients with fructose-1,6-bisphosphatase deficiency.
Kılıç M et al.
Metabolic Brain Disease, 2019
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
Mutation Spectrum and Birth Prevalence of Inborn Errors of Metabolism among Emiratis: A study from Tawam Hospital Metabolic Center, United Arab Emirates.
Al-Shamsi A et al.
Sultan Qaboos University Medical Journal, 2014
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