Relative frequency and estimated minimal frequency of Lysosomal Storage Diseases in Brazil: Report from a Reference Laboratory

by Giugliani,Roberto, Federhen,Andressa, Michelin-Tirelli,Kristiane, Riegel,Mariluce, Burin,Maira
Published 2017

COVID-19 impact on the diagnosis of Inborn Errors of Metabolism: Data from a reference center in Brazil

by Sebastião,Fernanda Medeiros, Michelin-Tirelli,Kristiane, Bender,Fernanda, Lopes,Franciele Fátima, Moraes,Inamara, Kubaski,Francyne, Giugliani,Roberto, Burin,Maira
Published 2022

Quantification of glucosylceramide in plasma of Gaucher disease patients

by Muller,Maria Viviane Gomes, Petry,André, Vianna,Luciene Pinheiro, Breier,Ana Carolina, Michelin-Tirelli,Kristiane, Pires,Ricardo Flores, Trindade,Vera Maria Treis, Coelho,Janice Carneiro
Published 2010

Lysosomal diseases: Overview on current diagnosis and treatment

by Poswar,Fabiano de Oliveira, Vairo,Filippo, Burin,Maira, Michelin-Tirelli,Kristiane, Brusius-Facchin,Ana Carolina, Kubaski,Francyne, Souza,Carolina Fischinger Moura de, Baldo,Guilherme, Giugliani,Roberto
Published 2019

Updated birth prevalence and relative frequency of mucopolysaccharidoses across Brazilian regions

by Josahkian,Juliana Alves, Trapp,Franciele Barbosa, Burin,Maira Graeff, Michelin-Tirelli,Kristiane, Magalhães,Ana Paula Pereira Scholz de, Sebastião,Fernanda Medeiros, Bender,Fernanda, Mari,Jurema Fátima De, Brusius-Facchin,Ana Carolina, Leistner-Segal,Sandra, Málaga,Diana Rojas, Giugliani,Roberto
Published 2021