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

by Marco Antonio Curiati, Sandra Obikawa Kyosen, Vanessa Gonçalves Pereira, Francy Reis da Silva Patrício, Ana Maria Martins
Published 2018-01-01

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

by Caio Perez Gomes, Maryana Mara Marins, Fabiana Louise Motta, Sandra Obikawa Kyosen, Marco Antonio Curiati, Vânia D’Almeida, Ana Maria Martins, João Bosco Pesquero
Published 2020-03-01

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

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