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 no Orphanet J Rare Dis (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 no Mol Genet Metab (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 no Genet Mol Biol (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 no Fluids Barriers CNS (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 no Fluids Barriers CNS (2017)

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

Por 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.
Publicado no Hum Mol Genet (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 no PLoS One (2017)