Replication Study of Polymorphisms Associated With Brain Arteriovenous Malformation in a Population From South of Brazil

por Franciscatto, André Cerutti, Ludwig, Fernanda S, Matte, Ursula S, Mota, Simone, Stefani, Marco A
Publicado 2016

Next-generation sequencing corroborates a probable de novo GNPTG variation previously detected by Sanger sequencing

por Ludwig, Nataniel Floriano, Sperb-Ludwig, Fernanda, Velho, Renata Voltolini, Schwartz, Ida Vanessa D.
Publicado 2017

Characterization of the 3'UTR of the BTD gene and identification of regulatory elements and microRNAs

por Silva, Gerda Cristal Villalba, Borsatto, Taciane, Schwartz, Ida Vanessa Doederlein, Sperb-Ludwig, Fernanda
Publicado 2022

Classical homocystinuria: A common inborn error of metabolism? An epidemiological study based on genetic databases

por Weber Hoss, Giovana R., Sperb‐Ludwig, Fernanda, Schwartz, Ida V. D., Blom, Henk J.
Publicado 2020

In vitro substrate reduction, chaperone and immunomodulation treatments reduce heparan sulfate in mucolipidosis III human fibroblasts

por Sperb-Ludwig, Fernanda, Ludwig, Nataniel Floriano, Rizowy, Gustavo Mottin, Velho, Renata Voltolini, Schwartz, Ida Vanessa Doederlein
Publicado 2023

Humoral immune response in adult Brazilian patients with Mucolipidosis III gamma

por Sperb-Ludwig, Fernanda, Alegra, Taciane, Velho, Renata Voltolini, Ludwig, Nataniel, Siebert, Marina, Jobim, Mariana, Vairo, Filippo, Schwartz, Ida V. D.
Publicado 2019

Analyses of disease-related GNPTAB mutations define a novel GlcNAc-1-phosphotransferase interaction domain and an alternative site-1 protease cleavage site

por Velho, Renata Voltolini, De Pace, Raffaella, Klünder, Sarah, Sperb-Ludwig, Fernanda, Lourenço, Charles Marques, Schwartz, Ida V. D., Braulke, Thomas, Pohl, Sandra
Publicado 2015

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

Pitfalls in the prenatal diagnosis of mucolipidosis II alpha/beta: A case report

por Alegra, Taciane, Koppe, Tiago, Acosta, Angelina, Sarno, Manoel, Burin, Maira, Kessler, Rejane Gus, Sperb-Ludwig, Fernanda, Cury, Gabriela, Baldo, Guilherme, Matte, Ursula, Giugliani, Roberto, Schwartz, Ida Vanessa D.
Publicado 2014

Prevalence of the most common pathogenic variants in three genes for inborn errors of metabolism associated with sudden unexpected death in infancy: a population-based study in sou...

por Randon, Dévora N., Sperb-Ludwig, Fernanda, Vianna, Fernanda S. L., Becker, Ana P. P., Vargas, Carmen R., Sitta, Angela, Sant’Ana, Alexia N., Schwartz, Ida V. D., de Bitencourt, Fernanda H.
Publicado 2020

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

A triple-blinded crossover study to evaluate the short-term safety of sweet manioc starch for the treatment of glycogen storage disease type Ia

por Monteiro, Vaneisse C. L., de Oliveira, Bibiana M., dos Santos, Bruna B., Sperb-Ludwig, Fernanda, Refosco, Lilia F., Nalin, Tatiele, Derks, Terry G. J., Moura de Souza, Carolina F., Schwartz, Ida V. D.
Publicado 2021

Molecular basis of various forms of maple syrup urine disease in Chilean patients

por Campanholi, Diana Ruffato Resende, Margutti, Ana Vitoria Barban, Silva, Wilson A., Garcia, Daniel F., Molfetta, Greice A., Marques, Adriana A., Schwartz, Ida Vanessa Döederlein, Cornejo, V., Hamilton, Valerie, Castro, Gabriela, Sperb‐Ludwig, Fernanda, Borges, Ester S., Camelo, José S.
Publicado 2021

Biotinidase deficiency: clinical and genetic studies of 38 Brazilian patients

por Borsatto, Taciane, Sperb-Ludwig, Fernanda, Pinto, Louise LC, De Luca, Gisele R, Carvalho, Francisca L, De Souza, Carolina FM, De Medeiros, Paula FV, Lourenço, Charles M, Filho, Reinaldo LO, Neto, Eurico C, Bernardi, Pricila, Leistner-Segal, Sandra, Schwartz, Ida VD
Publicado 2014

Phenylketonuria Diagnosis by Massive Parallel Sequencing and Genotype-Phenotype Association in Brazilian Patients

por Tresbach, Rafael Hencke, Sperb-Ludwig, Fernanda, Ligabue-Braun, Rodrigo, Tonon, Tássia, de Oliveira Cardoso, Maria Teresinha, Heredia, Romina Soledad, da Silva Rosa, Maria Teresa Alves, Martins, Bárbara Cátia, Poubel, Monique Oliveira, da Silva, Luiz Carlos Santana, Maillot, François, Schwartz, Ida Vanessa Doederlein
Publicado 2020

Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients

por Borsatto, Taciane, Sperb-Ludwig, Fernanda, Lima, Samyra E., S. Carvalho, Maria R., S. Fonseca, Pablo A., S. Camelo, José, M. Ribeiro, Erlane, F. V. de Medeiros, Paula, M. Lourenço, Charles, F. M. de Souza, Carolina, Boy, Raquel, Félix, Têmis M., M. Bittar, Camila, L. C. Pinto, Louise, C. Neto, Eurico, J. Blom, Henk, D. Schwartz, Ida V.
Publicado 2017

Correction: Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients

por Borsatto, Taciane, Sperb-Ludwig, Fernanda, Lima, Samyra E., Carvalho, Maria R. S., Fonseca, Pablo A. S., Camelo, José S., Ribeiro, Erlane M., de Medeiros, Paula F. V., Lourenço, Charles M., de Souza, Carolina F. M., Boy, Raquel, Félix, Têmis M., Bittar, Camila M., Pinto, Louise L. C., Neto, Eurico C., Blom, Henk J., Schwartz, Ida V. D.
Publicado 2017

Maple syrup urine disease in Brazilian patients: variants and clinical phenotype heterogeneity

por Margutti, Ana Vitoria Barban, Silva, Wilson Araújo, Garcia, Daniel Fantozzi, de Molfetta, Greice Andreotti, Marques, Adriana Aparecida, Amorim, Tatiana, Prazeres, Vânia Mesquita Gadelha, Boy da Silva, Raquel Tavares, Miura, Irene Kazue, Seda Neto, João, Santos, Emerson de Santana, Santos, Mara Lúcia Schmitz Ferreira, Lourenço, Charles Marques, Tonon, Tássia, Sperb-Ludwig, Fernanda, de Souza, Carolina Fischinger Moura, Schwartz, Ida Vanessa Döederlein, Camelo, José Simon
Publicado 2020

CBS mutations are good predictors for B6‐responsiveness: A study based on the analysis of 35 Brazilian Classical Homocystinuria patients

por Poloni, Soraia, Sperb‐Ludwig, Fernanda, Borsatto, Taciane, Weber Hoss, Giovana, Doriqui, Maria Juliana R., Embiruçu, Emília K., Boa‐Sorte, Ney, Marques, Charles, Kim, Chong A., Fischinger Moura de Souza, Carolina, Rocha, Helio, Ribeiro, Marcia, Steiner, Carlos E., Moreno, Carolina A., Bernardi, Pricila, Valadares, Eugenia, Artigalas, Osvaldo, Carvalho, Gerson, Wanderley, Hector Y. C., Kugele, Johanna, Walter, Melanie, Gallego‐Villar, Lorena, Blom, Henk J., Schwartz, Ida Vanessa D.
Publicado 2018