Lysosomal Acid Lipase Deficiency: Report of Five Cases across the Age Spectrum

por Curiati, Marco Antonio, Kyosen, Sandra Obikawa, Pereira, Vanessa Gonçalves, Patrício, Francy Reis da Silva, Martins, Ana Maria
Publicado 2018

A New Mutation in IDS Gene Causing Hunter Syndrome: A Case Report

por Gomes, Caio Perez, Marins, Maryana Mara, Motta, Fabiana Louise, Kyosen, Sandra Obikawa, Curiati, Marco Antonio, D’Almeida, Vânia, Martins, Ana Maria, Pesquero, João Bosco
Publicado 2020

Impact of ERT and follow-up of 17 patients from the same family with a mild form of MPS II

por Stephan, Bruno de Oliveira, Quaio, Caio Robledo, Spolador, Gustavo Marquezani, de Paula, Ana Carolina, Curiati, Marco Antônio, Martins, Ana Maria, Leal, Gabriela Nunes, Tenorio, Artur, Finzi, Simone, Chimelo, Flavia Teixeira, Matas, Carla Gentile, Honjo, Rachel Sayuri, Bertola, Debora Romeo, Kim, Chong Ae
Publicado 2022

Leigh syndrome in a patient with a novel C12orf65 pathogenic variant: case report and literature review

por Perrone, Eduardo, Cavole, Thiago R., Oliveira, Manuella G., Virmond, Luiza do A., Silva, Marina de França B., Soares, Maria de Fatima F., Iglesias, Simone Brasil de O., Falconi, Ariane, Silva, Juliana S., Nakano, Viviane, Milanezi, Maria Fernanda, Mendes, Carmen Silvia C., Curiati, Marco Antonio, Micheletti, Cecília
Publicado 2020