Franciele C. Pinheiro
Porto Alegre, RS, Brazil
Last Updated: 09/26/2026
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Found 10 publications
Serum hepcidin as a biomarker of treatment response in Gaucher disease.
Journal: Molecular genetics and metabolism reports
Published: June 15, 2025
Glycogen Storage Disease: Expert Opinion on Clinical Diagnosis Revisited after Molecular Testing.
Journal: Genes
Published: October 23, 2023
An adult with cystathionine beta-synthase deficiency, camptodactyly-arthropathy-coxa vara-pericarditis syndrome, and deafness: A case report.
Journal: Genetics and molecular biology
Published: November 07, 2022
Are the Bacteria and Their Metabolites Contributing for Gut Inflammation on GSD-Ia Patients?
Journal: Metabolites
Published: August 04, 2022
Epidemiological aspects of hereditary fructose intolerance: A database study.
Journal: Human mutation
Published: December 30, 2020
The fructose-1,6-bisphosphatase deficiency and the p.(Lys204ArgfsTer72) variant.
Journal: Genetics and molecular biology
Published: August 11, 2020
The rs2229611 (G6PC:c.*23 T>C) is associated with glycogen storage disease type Ia in Brazilian patients.
Journal: Molecular genetics and metabolism reports
Published: July 21, 2020
KHK inhibition for the treatment of hereditary fructose intolerance and nonalcoholic fatty liver disease: a double-edged sword.
Journal: Cellular and molecular life sciences : CMLS
Published: February 25, 2020
Glycogen storage diseases: Twenty-seven new variants in a cohort of 125 patients.
Journal: Molecular genetics & genomic medicine
Published: February 21, 2019
Genetic analysis of patients with fructose-1,6-bisphosphatase deficiency.
Journal: Gene
Published: August 22, 2018
Showing 1-10 of 10
Last Updated: 09/26/2026