Article

Fructose-1,6-Bisphosphatase Deficiency: A Pediatric Case Report

2021-03-03

Abstract excerpt

<h4>Background: </h4> Fructose-1,6-bisphosphatase (FBPase) deficiency is a rare disorder of glucose metabolism, mainly revealed by hypoglycemia and lactic acidosis. The disease is caused by a mutation of FBP1 gene, which is clustered in a 31-kb region on chromosome 9q22. Case presentation: We described a two-and-half-year-old boy diagnosed as FBPase deficiency. The result of gene analysis showed that the patient h...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 54ad1d6e-c5a6-5384-a635-36fa424d056a
DOI: 10.21203/rs.3.rs-250429/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Fructose-1,6-Bisphosphatase Deficiency: A Pediatric Case ReportDOI 10.21203/rs.3.rs-250429/v1Read

[Genetic diagnosis of fructose-1, 6-bisphosphatase deficiency: a case report].Semantic proximity Read

Clinical and molecular characteristics of fructose 1, 6 bisphosphatase deficiency in 6 Egyptian patients and two common variants.Semantic proximity Read

Fructose-1,6-bisphosphatase deficiency with confirmed molecular diagnosis. An important cause of hypoglycemia in children.Semantic proximity Read

Fructose-1,6-bisphosphatase deficiency as a cause of recurrent hypoglycemia and metabolic acidosis: Clinical and molecular findings in Malaysian patients.Semantic proximity Read

Novel compound heterozygous mutations of the FBP1 gene in a patient with hypoglycemia and lactic acidosis: A case report.Semantic proximity Read

Clinical and Molecular Characterization of Patients with Fructose 1,6-Bisphosphatase Deficiency.Semantic proximity Read

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.Semantic proximity Read

Novel fructose-1,6-bisphosphatase gene mutation in two siblings.Semantic proximity Read

Characterization based on genotype–biochemical phenotype association in fructose-1,6-bisphosphatase deficiencySemantic proximity Read

Novel compound heterozygous mutations in the fructose-1,6-bisphosphatase gene cause hypoglycemia and lactic acidosis.Semantic proximity Read

Genetic analysis of fructose-1,6-bisphosphatase (FBPase) deficiency in nine consanguineous Pakistani families.Semantic proximity Read

Novel fructose bisphosphatase 1 gene mutation presenting as recurrent episodes of vomiting in an Indian child.Semantic proximity Read