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

著者: Giugliani, Roberto, Vairo, Filippo P., Riegel, Mariluce, de Souza, Carolina F. M., Schwartz, Ida V. D., Pena, Sérgio D. J.
出版年 Orphanet J Rare Dis (2016)

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

著者: 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
出版年 Mol Genet Metab (2021)

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

著者: 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
出版年 JIMD Rep (2021)

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

著者: 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
出版年 Genet Mol Biol (2019)

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

著者: 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
出版年 Fluids Barriers CNS (2017)

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

著者: 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
出版年 Fluids Barriers CNS (2017)

Abnormal polyamine metabolism is unique to the neuropathic forms of MPS: potential for biomarker development and insight into pathogenesis

著者: Hinderer, Christian, Katz, Nathan, Louboutin, Jean-Pierre, Bell, Peter, Tolar, Jakub, Orchard, Paul J., Lund, Troy C., Nayal, Mohamad, Weng, Liwei, Mesaros, Clementina, de Souza, Carolina F.M., Dalla Corte, Amauri, Giugliani, Roberto, Wilson, James M.
出版年 Hum Mol Genet (2017)

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

著者: 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
出版年 J Paediatr Child Health (2020)

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

著者: 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.
出版年 PLoS One (2017)