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

by Roberto Giugliani, Andressa Federhen, Kristiane Michelin-Tirelli, Mariluce Riegel, Maira Burin
Published 2017-03-01

The prognostic value of the serum ferritin in a southern Brazilian cohort of patients with Gaucher disease

by Tiago Koppe, Divair Doneda, Marina Siebert, Livia Paskulin, Matheus Camargo, Kristiane Michelin Tirelli, Filippo Vairo, Liane Daudt, Ida Vanessa D. Schwartz
Published 2016-03-01

Diagnosis of Mucopolysaccharidoses

by Francyne Kubaski, Fabiano de Oliveira Poswar, Kristiane Michelin-Tirelli, Maira Graeff Burin, Diana Rojas-Málaga, Ana Carolina Brusius-Facchin, Sandra Leistner-Segal, Roberto Giugliani
Published 2020-03-01

Mucopolysaccharidosis Type I

by Francyne Kubaski, Fabiano de Oliveira Poswar, Kristiane Michelin-Tirelli, Ursula da Silveira Matte, Dafne D. Horovitz, Anneliese Lopes Barth, Guilherme Baldo, Filippo Vairo, Roberto Giugliani
Published 2020-03-01

Quantification of glucosylceramide in plasma of Gaucher disease patients

by Maria Viviane Gomes Muller, André Petry, Luciene Pinheiro Vianna, Ana Carolina Breier, Kristiane Michelin-Tirelli, Ricardo Flores Pires, Vera Maria Treis Trindade, Janice Carneiro Coelho
Published 2010-12-01

Lysosomal diseases: Overview on current diagnosis and treatment

by Fabiano de Oliveira Poswar, Filippo Vairo, Maira Burin, Kristiane Michelin-Tirelli, Ana Carolina Brusius-Facchin, Francyne Kubaski, Carolina Fischinger Moura de Souza, Guilherme Baldo, Roberto Giugliani
Published 2019-04-01

Rare GBA1 genotype associated with severe bone disease in Gaucher disease type 1

by Livia d'Avila Paskulin, Rodrigo Tzovenos Starosta, Vitória Schütt Zizemer, Suélen Basgalupp, Débora Bertholdo, Filippo Pinto e Vairo, Marina Siebert, Kristiane Michelin-Tirelli, Ida Vanessa Doederlein Schwartz
Published 2019-12-01

Investigation of newborns with abnormal results in a newborn screening program for four lysosomal storage diseases in Brazil

by Heydy Bravo, Eurico Camargo Neto, Jaqueline Schulte, Jamile Pereira, Claudio Sampaio Filho, Fernanda Bittencourt, Fernanda Sebastião, Fernanda Bender, Ana Paula Scholz de Magalhães, Régis Guidobono, Franciele Barbosa Trapp, Kristiane Michelin-Tirelli, Carolina F.M. Souza, Diana Rojas Málaga, Gabriela Pasqualim, Ana Carolina Brusius-Facchin, Roberto Giugliani
Published 2017-09-01