Next-generation glycogen storage diseases

por Derks, Terry G. J., Oosterveer, Maaike H., De Souza, Carolina F.
Publicado 2018

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

Long-term experience with enzyme replacement therapy (ERT) in MPS II patients with a severe phenotype: an international case series

por Lampe, Christina, Bosserhoff, Ann-Kathrin, Burton, Barbara K., Giugliani, Roberto, de Souza, Carolina F., Bittar, Camila, Muschol, Nicole, Olson, Rebecca, Mendelsohn, Nancy J.
Publicado 2014

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

A triple-blinded crossover study to evaluate the short-term safety of sweet manioc starch for the treatment of glycogen storage disease type Ia

por Monteiro, Vaneisse C. L., de Oliveira, Bibiana M., dos Santos, Bruna B., Sperb-Ludwig, Fernanda, Refosco, Lilia F., Nalin, Tatiele, Derks, Terry G. J., Moura de Souza, Carolina F., Schwartz, Ida V. D.
Publicado 2021

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

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