Documentation of a novel FBP1 gene mutation in the Arabian ethnicity: a case report
J Med Case Rep. 2024 Apr 9;18(1):166. doi: 10.1186/s13256-024-04448-9. ABSTRACT BACKGROUND: Fructose-1,6-bisphosphatase deficiency is a rare autosomal recessive disorder characterized by impaired gluconeogenesis. Fructose-1,6-bisphosphatase 1 …