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)

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)