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

Information and Diagnosis Networks – tools to improve diagnosis and treatment for patients with rare genetic diseases

by Vieira,Taiane Alves, Trapp,Franciele Barbosa, Souza,Carolina Fischinger Moura de, Faccini,Lavínia Schuler, Jardim,Laura Bannach, Schwartz,Ida Vanessa Doederlein, Riegel,Mariluce, Vargas,Carmen Regla, Burin,Maira Graeff, Leistner-Segal,Sandra, Ashton-Prolla,Patrícia, 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