Franciele Cabral Pinheiro (Franciele C Pinheiro)

ORCID

Publication Activity (10 Years)

Years Active: 2020-2024
Publications (10 Years): 10

Top Venues

Genetics and molecular biology

Genes

Cellular and molecular life sciences : CMLS

Human mutation

Universidade Federal do Rio Grande do Sul (PHD)

This page only lists publications with an associated author ORCID identifier.

Education History

Universidade Federal do Rio Grande do Sul Apr 01 2016 - Mar 06 2020

Brazil

PHD :: Genetic and Molecular Biology

Publications

Karina Carvalho Donis, Marco Antônio Baptista Kalil, Fabiano de Oliveira Poswar, Fernando Kok, Charles Lubianca Kohem, Soraia Poloni, Taciane Borsatto, Filippo Pinto E Vairo, Franciele Cabral Pinheiro, Ida Vanessa Döederlein Schwartz
An adult with cystathionine beta-synthase deficiency, camptodactyly-arthropathy-coxa vara-pericarditis syndrome, and deafness: A case report. Genetics and molecular biology 47 (1) (2024)
Karina Carvalho Donis, Marco Antônio Baptista Kalil, Fabiano de Oliveira Poswar, Fernando Kok, Charles Lubianca Kohem, Soraia Poloni, Taciane Borsatto, Filippo Pinto E Vairo, Franciele Cabral Pinheiro, Ida Vanessa Döederlein Schwartz
An adult with cystathionine beta-synthase deficiency, camptodactyly-arthropathy-coxa vara-pericarditis syndrome, and deafness: A case report. Genetics and molecular biology 47 (1) (2024)
Karina Carvalho Donis, Marco Antônio Baptista Kalil, Fabiano de Oliveira Poswar, Fernando Kok, Charles Lubianca Kohem, Soraia Poloni, Taciane Borsatto, Filippo Pinto E Vairo, Franciele Cabral Pinheiro, Ida Vanessa Döederlein Schwartz
An adult with cystathionine beta-synthase deficiency, camptodactyly-arthropathy-coxa vara-pericarditis syndrome, and deafness: A case report. Genetics and molecular biology 47 (1) (2024)
Rafael de Marchi, Tatiele Nalin, Fernanda Sperb-Ludwig, Franciele Cabral Pinheiro, Ida Vanessa Doederlein Schwartz, Carlos Eduardo Steiner
Glycogen Storage Disease: Expert Opinion on Clinical Diagnosis Revisited after Molecular Testing. Genes 14 (12) (2023)
Rafael de Marchi, Tatiele Nalin, Fernanda Sperb-Ludwig, Franciele Cabral Pinheiro, Ida Vanessa Doederlein Schwartz, Carlos Eduardo Steiner
Glycogen Storage Disease: Expert Opinion on Clinical Diagnosis Revisited after Molecular Testing. Genes 14 (12) (2023)
Rafael de Marchi, Tatiele Nalin, Fernanda Sperb-Ludwig, Franciele Cabral Pinheiro, Ida Vanessa Doederlein Schwartz, Carlos Eduardo Steiner
Glycogen Storage Disease: Expert Opinion on Clinical Diagnosis Revisited after Molecular Testing. Genes 14 (12) (2023)
Karina Colonetti, Evelise Leis de Carvalho, Darlene Lopes Rangel, Paulo Marcos Pinto, Luiz Fernando Würdig Roesch, Franciele Cabral Pinheiro, Ida Vanessa Doederlein Schwartz
Are the Bacteria and Their Metabolites Contributing for Gut Inflammation on GSD-Ia Patients? Metabolites 12 (9) (2022)
Franciele Cabral Pinheiro, Fernanda Sperb-Ludwig, Ida V D Schwartz
Epidemiological aspects of hereditary fructose intolerance: A database study. Human mutation 42 (12) (2021)
Franciele Cabral Pinheiro, Rodrigo Ligabue-Braun, Ana Cecília Menezes de Siqueira, Camila Matuella, Carolina Fischinger Moura de Souza, Fabíola Paoli Monteiro, Fernando Kok, Ida Vanessa Döederlein Schwartz, Fernanda Sperb-Ludwig
The fructose-1,6-bisphosphatase deficiency and the p.(Lys204ArgfsTer72) variant. Genetics and molecular biology 44 (2) (2021)
Franciele Cabral Pinheiro, Fernanda Sperb-Ludwig, Ida Vanessa Doederlein Schwartz
KHK inhibition for the treatment of hereditary fructose intolerance and nonalcoholic fatty liver disease: a double-edged sword. Cellular and molecular life sciences : CMLS 77 (17) (2020)

Franciele Cabral Pinheiro.css-eqlu8i{font-size:small;padding-left:4px;} (Franciele C Pinheiro)

Publication Activity (10 Years)

Top Topics

Top Venues

Franciele Cabral Pinheiro (Franciele C Pinheiro)