Associated Papers
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
Fructose 1,6 bisphosphatase deficiency: outcomes of patients in a single center in Turkey and identification of novel splice site and indel mutations in FBP1.
Emecen Sanli M et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2022
Intronic variants in inborn errors of metabolism: Beyond the exome.
Hertzog A et al.
Frontiers in Genetics, 2022
Select a paper to view details