Polymorphic variants (p.Ser141Ser and p.Arg737Gly) at the NAGLU gene are really indicative of pseudodeficiency alleles?

by Diana Rojas Malaga, Sandra Leistner-Segal, Ana Carolina Brusius-Facchin
Published 2019-05-01

Cardiac disease as the presenting feature of mucopolysaccharidosis type IIIA: A case report

by Erlane Marques Ribeiro, Ana Carolina Brusius-Facchin, Sandra Leistner-Segal, Carlos Antônio Bruno da Silva, Ida Vanessa Schwartz
Published 2014-01-01

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

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

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

by Ana Carolina Brusius-Facchin, Marina Siebert, Delva Leão, Diana Rojas Malaga, Gabriela Pasqualim, Franciele Trapp, Ursula Matte, Roberto Giugliani, Sandra Leistner-Segal
Published 2019-04-01

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

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

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

by Diana Rojas Málaga, Ana Carolina Brusius-Facchin, Marina Siebert, Gabriela Pasqualim, Maria Luiza Saraiva-Pereira, Carolina F.M de Souza, Ida V.D. Schwartz, Ursula Matte, Roberto Giugliani
Published 2019-04-01

Neonatal Screening for MPS Disorders in Latin America: A Survey of Pilot Initiatives

by Francyne Kubaski, Inês Sousa, Tatiana Amorim, Danilo Pereira, Joe Trometer, Alexandre Souza, Enzo Ranieri, Giulia Polo, Alberto Burlina, Ana Carolina Brusius-Facchin, Alice Brinckmann Oliveira Netto, Shunji Tomatsu, Roberto Giugliani
Published 2020-11-01

Clinical findings in Brazilian patients with adult GM1 gangliosidosis

by Luciana Giugliani, Carlos Eduardo Steiner, Chong Ae Kim, Charles Marques Lourenço, Mara Lucia Schmitz Ferreira Santos, Carolina Fischinger Moura deSouza, Ana Carolina Brusius‐Facchin, Guilherme Baldo, Mariluce Riegel, Roberto Giugliani
Published 2019-09-01

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

Population medical genetics: translating science to the community

by Roberto Giugliani, Fernanda Bender, Rowena Couto, Aline Bochernitsan, Ana Carolina Brusius-Facchin, Maira Burin, Tatiana Amorim, Angelina Xavier Acosta, Antônio Purificação, Sandra Leistner-Segal, Maria Luiza Saraiva-Pereira, Laura Bannach Jardim, Ursula Matte, Mariluce Riegel, Augusto César Cardoso-dos-Santos, Graziella Rodrigues, Marcelo Zagonel de Oliveira, Alice Tagliani-Ribeiro, Selia Heck, Vanusa Dresch, Lavínia Schuler-Faccini, Francyne Kubaski
Published 2019-04-01