Impact of COVID-19 on treatment and follow-up in patients with selected lysosomal diseases in a Brazilian center

por Schwartz, Ida V.D., Silva, Thiago O., Poswar, Fabiano O., Souza, Carolina F.M., Giugliani, Roberto
Publicado 2021

Rare disease landscape in Brazil: report of a successful experience in inborn errors of metabolism

por Giugliani, Roberto, Vairo, Filippo P., Riegel, Mariluce, de Souza, Carolina F. M., Schwartz, Ida V. D., Pena, Sérgio D. J.
Publicado 2016

Two different presentations of de novo variants of CSNK2B: two case reports

por Wilke, Matheus V. M. B, Oliveira, Bibiana M., Pereira, Alessandra, Doriqui, Maria Juliana R., Kok, Fernando, Souza, Carolina F. M.
Publicado 2022

Clinical profile and molecular characterization of Galactosemia in Brazil: identification of seven novel mutations

por Garcia, Daniel F., Camelo, José S., Molfetta, Greice A., Turcato, Marlene, Souza, Carolina F. M., Porta, Gilda, Steiner, Carlos E., Silva, Wilson A.
Publicado 2016

COVID-19 pandemic impact on Brazilian patients with lysosomal diseases: A patient's perspective

por Schwartz, Ida V.D., Randon, Dévora N., Ferraro, Lethicia C., de Souza, Carolina F.M., Horovitz, Dafne D.G., de Sá, Natan M., Brunoni, Decio
Publicado 2021

Magnetic resonance imaging findings of the posterior fossa in 47 patients with mucopolysaccharidoses: A cross‐sectional analysis

por Reichert, Roberta, Pérez, Juliano A., Dalla‐Corte, Amauri, Pinto e Vairo, Filippo, de Souza, Carolina F. M., Giugliani, Roberto, Isolan, Gustavo R., Stefani, Marco Antonio
Publicado 2021

Sensitivity, advantages, limitations, and clinical utility of targeted next-generation sequencing panels for the diagnosis of selected lysosomal storage disorders

por Málaga, Diana Rojas, Brusius-Facchin, Ana Carolina, Siebert, Marina, Pasqualim, Gabriela, Saraiva-Pereira, Maria Luiza, de Souza, Carolina F.M, Schwartz, Ida V.D., Matte, Ursula, Giugliani, Roberto
Publicado 2019

Correlation of CSF flow using phase-contrast MRI with ventriculomegaly and CSF opening pressure in mucopolysaccharidoses

por Corte, Amauri Dalla, de Souza, Carolina F. M., Anés, Maurício, Maeda, Fabio K., Lokossou, Armelle, Vedolin, Leonardo M., Longo, Maria Gabriela, Ferreira, Monica M., Perrone, Solanger G. P., Balédent, Olivier, Giugliani, Roberto
Publicado 2017

Correction to: Correlation of CSF flow using phase-contrast MRI with ventriculomegaly and CSF opening pressure in mucopolysaccharidoses

por Corte, Amauri Dalla, de Souza, Carolina F. M., Anés, Maurício, Maeda, Fabio K., Lokossou, Armelle, Vedolin, Leonardo M., Longo, Maria Gabriela, Ferreira, Monica M., Perrone, Solanger G. P., Balédent, Olivier, Giugliani, Roberto
Publicado 2017

Long-term outcomes of systemic therapies for Hurler syndrome: an international multi-center comparison

por Eisengart, Julie B., Rudser, Kyle D., Xue, Yong, Orchard, Paul, Miller, Weston, Lund, Troy, Van der Ploeg, Ans, Mercer, Jean, Jones, Simon, Mengel, Karl Eugen, Gökce, Seyfullah, Guffon, Nathalie, Giugliani, Roberto, Souza, Carolina F. M., Shapiro, Elsa G., Whitley, Chester B.
Publicado 2018

Revealing the clinical phenotype of atypical neuronal ceroid lipofuscinosis type 2 disease: Insights from the largest cohort in the world

por Lourenço, Charles M, Pessoa, Andre, Mendes, Carmen C, Rivera‐Nieto, Carolina, Vergara, Diane, Troncoso, Mónica, Gardner, Emily, Mallorens, Francisca, Tavera, Lina, Lizcano, Luis A, Atanacio, Nora, Guelbert, Norberto, Specola, Norma, Mancilla, Nury, de Souza, Carolina F M, Mole, Sara E
Publicado 2020

Investigation of newborns with abnormal results in a newborn screening program for four lysosomal storage diseases in Brazil

por Bravo, Heydy, Neto, Eurico Camargo, Schulte, Jaqueline, Pereira, Jamile, Filho, Claudio Sampaio, Bittencourt, Fernanda, Sebastião, Fernanda, Bender, Fernanda, de Magalhães, Ana Paula Scholz, Guidobono, Régis, Trapp, Franciele Barbosa, Michelin-Tirelli, Kristiane, Souza, Carolina F.M., Rojas Málaga, Diana, Pasqualim, Gabriela, Brusius-Facchin, Ana Carolina, Giugliani, Roberto
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