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

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

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

por Málaga, Diana Rojas, Brusius-Facchin, Ana Carolina, Siebert, Marina, Pasqualim, Gabriela, Saraiva-Pereira, Maria Luiza, de Souza, Carolina F.M, Schwartz, Ida V.D., Matte, Ursula, Giugliani, Roberto
Publicado 2019

Updated birth prevalence and relative frequency of mucopolysaccharidoses across Brazilian regions

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