Prevalence of thrombophilia and thrombotic events in patients with fabry disease in a Reference Center for Lysosomal Disorders in Southern Brazil

by Jéssica Dick, Sandra Leistner-Segal, Filippo Pinto Vairo, Roberto Giugliani, Ida Vanessa Doederlein Schwartz
Published 2016-05-01

Fast and robust protocol for prenatal diagnosis of mucopolysaccharidosis type II

by Sandra Leistner-Segal, Ana Carolina Brusius-Facchin, Rejane Gus, Maira Burin, Maria Teresa Sanseverino, José Antônio Magalhães, Roberto Giugliani
Published 2014-11-01

Análise comparativa entre as metodologias de PCR metilação-específica (MSP), Southern blot (SB) e FISH utilizadas no diagnóstico genético molecular de pacientes com suspeita clínic...

by Bruna Oliveira, Letícia da Cunha Veber, Têmis Maria Félix, Mariluce Riegel, Isabel Cristina Bandeira da Silva, Carla Streit, Sandra Leistner-Segal
Published 2016-08-01