Filters
Term Search
You can select from the dropdown list OR enter your own terms to refine the search.
Last Updated: 01/07/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 232 publications
A child with Fructose-1,6-bisphosphatase deficiency due to variant of FBP1 gene: Genetic and clinical analysis and literature review
Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Published: August 05, 2025
Utility of continuous glucose monitoring for identifying silent hypoglycemia in fructose-1,6-bisphosphatase deficiency: a pilot prospective evaluation.
Journal: Frontiers in endocrinology
Published: July 12, 2025
Clinical and molecular characterization of 14 Egyptian children with fructose-1,6-bisphosphatase deficiency.
Journal: Italian journal of pediatrics
Published: June 20, 2025
Clinical and molecular characteristics of fructose 1, 6 bisphosphatase deficiency in 6 Egyptian patients and two common variants.
Journal: Orphanet journal of rare diseases
Published: March 19, 2025
ChREBP mediates metabolic remodeling in FBP1-deficient liver.
Journal: American journal of physiology. Cell physiology
Published: March 07, 2025
Fructose-1,6-bisphosphatase deficiency presenting with neonatal hyperlactatemia and elevated lactate-to-pyruvate ratio.
Journal: Pediatrics international : official journal of the Japan Pediatric Society
Published: February 26, 2025
Infantile Fructose-1,6-Bisphosphatase Deficiency Masquerading as Mitochondriopathy.
Journal: Cureus
Published: July 22, 2024
An extremely rare case of hypoglycemia with a novel mutation and review of the literature: fructose-1,6 bisphosphatase deficiency in an adult man.
Journal: Irish journal of medical science
Published: December 22, 2023
FBP1 orchestrates keratinocyte proliferation/differentiation and suppresses psoriasis through metabolic control of histone acetylation.
Journal: Cell death & disease
Published: October 26, 2023
Last Updated: 01/07/2026