Franciele Cabral Pinheiro

6PUBLICATIONS
7CO-AUTHORS
NeurogeneticsGene expression (incl. microarray and other genome-wide approaches)Medical biochemistry - amino acids and metabolitesMajor global burdens of diseaseMedical biochemistry - proteins and peptides (incl. medical proteomics)
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Publications (6)

|Apr 09, 2024
An adult with cystathionine beta-synthase deficiency, camptodactyly-arthropathy-coxa vara-pericarditis syndrome, and deafness: A case report.

Karina Carvalho Donis, Marco Antônio Baptista Kalil, Fabiano Poswar

|Dec 23, 2023
Glycogen Storage Disease: Expert Opinion on Clinical Diagnosis Revisited after Molecular Testing.

Rafael de Marchi, Tatiele Nalin, Fernanda Sperb-Ludwig

|Sep 23, 2022
Are the Bacteria and Their Metabolites Contributing for Gut Inflammation on GSD-Ia Patients?

Karina Colonetti, Evelise Leis de Carvalho, Darlene Lopes Rangel

|Sep 15, 2021
Epidemiological aspects of hereditary fructose intolerance: A database study.

Franciele C Pinheiro, Fernanda Sperb-Ludwig, Ida V D Schwartz

|May 17, 2021
The fructose-1,6-bisphosphatase deficiency and the p.(Lys204ArgfsTer72) variant.

Franciele Cabral Pinheiro, Rodrigo Ligabue-Braun, Ana Cecília Menezes de Siqueira

|Jun 28, 2020
KHK inhibition for the treatment of hereditary fructose intolerance and nonalcoholic fatty liver disease: a double-edged sword.

Franciele Cabral Pinheiro, Fernanda Sperb-Ludwig, Ida Vanessa Doederlein Schwartz

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Frequent Collaborators

3 joint publications

Fernanda Sperb-Ludwig

2 joint publications

Ida Vanessa Doederlein Schwartz

1 joint publications

Paulo Marcos Pinto

1 joint publications

Luiz Fernando Wurdig Roesch