Phenotype-oriented NGS panels for mucopolysaccharidoses: Validation and potential use in the diagnostic flowchart

by Brusius-Facchin,Ana Carolina, Siebert,Marina, Leão,Delva, Malaga,Diana Rojas, Pasqualim,Gabriela, Trapp,Franciele, Matte,Ursula, Giugliani,Roberto, Leistner-Segal,Sandra
Published 2019

A Case Report on the Challenging Diagnosis of Neuronal Ceroid Lipofuscinosis Type 2 (CLN2)

by Nunes,Andrea, Meira,Joanna, Cunha,Caio, Veiga,Marielza, Magalhães,Ana Paula Scholz de, Málaga,Diana Rojas, Giugliani,Roberto, Leão,Emília Katiane Embiruçu
Published 2020

Sensitivity, advantages, limitations, and clinical utility of targeted next-generation sequencing panels for the diagnosis of selected lysosomal storage disorders

by Málaga,Diana Rojas, Brusius-Facchin,Ana Carolina, Siebert,Marina, Pasqualim,Gabriela, Saraiva-Pereira,Maria Luiza, Souza,Carolina F.M de, Schwartz,Ida V.D., Matte,Ursula, 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