The rs2229611 (G6PC:c.*23 T>C) is associated with glycogen storage disease type Ia in Brazilian patients

por Pinheiro, Franciele Cabral, Sperb-Ludwig, Fernanda, Fagundes Verch, Juliana Maria, dos Santos, Bruna Bento, de Souza, Carolina Fischinger Moura, Schwartz, Ida Vanessa Doederlein
Publicado 2020

Are the Bacteria and Their Metabolites Contributing for Gut Inflammation on GSD-Ia Patients?

por Colonetti, Karina, de Carvalho, Evelise Leis, Rangel, Darlene Lopes, Pinto, Paulo Marcos, Roesch, Luiz Fernando Wurdig, Pinheiro, Franciele Cabral, Schwartz, Ida Vanessa Doederlein
Publicado 2022

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

por Pinheiro, Franciele Cabral, Ligabue-Braun, Rodrigo, de Siqueira, Ana Cecília Menezes, Matuella, Camila, de Souza, Carolina Fischinger Moura, Monteiro, Fabíola Paoli, Kok, Fernando, Schwartz, Ida Vanessa Doederlein, Sperb-Ludwig, Fernanda
Publicado 2021

Glycogen storage diseases: Twenty‐seven new variants in a cohort of 125 patients

por Sperb-Ludwig, Fernanda, Pinheiro, Franciele Cabral, Bettio Soares, Malu, Nalin, Tatiele, Ribeiro, Erlane Marques, Steiner, Carlos Eduardo, Ribeiro Valadares, Eugênia, Porta, Gilda, Fishinger Moura de Souza, Carolina, Schwartz, Ida Vanessa Doederlein
Publicado 2019