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

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

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

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

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

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

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

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

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

অনুযায়ী 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
প্রকাশিত 2021

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

অনুযায়ী 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
প্রকাশিত 2021

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

অনুযায়ী 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
প্রকাশিত 2019

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

অনুযায়ী 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
প্রকাশিত 2017

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

অনুযায়ী 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
প্রকাশিত 2017

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

অনুযায়ী 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.
প্রকাশিত 2018

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

অনুযায়ী 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
প্রকাশিত 2020

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

অনুযায়ী 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
প্রকাশিত 2017

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

অনুযায়ী 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.
প্রকাশিত 2017