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

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Detection of Mosaic Variants in Mothers of MPS II Patients by Next Generation Sequencing by Alice Brinckmann Oliveira Netto, Alice Brinckmann Oliveira Netto, Ana Carolina Brusius-Facchin, Ana Carolina Brusius-Facchin, Ana Carolina Brusius-Facchin, Sandra Leistner-Segal, Francyne Kubaski, Francyne Kubaski, Francyne Kubaski, Francyne Kubaski, Juliana Josahkian, Juliana Josahkian, Roberto Giugliani, Roberto Giugliani, Roberto Giugliani, Roberto Giugliani

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Standardization of an organic DNA extraction method from dried blood spots and its downstream molecular applications for neonatal screening and diagnostic confirmation of lysosomal... by Alice Brinckmann Oliveira Netto, Diana Rojas Málaga, Francyne Kubaski, Ana Carolina Brusius Facchin, Roberto Giugliani

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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

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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

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Difficulties in the Diagnosis of Gaucher Disease in a Low-Income Country: A Case Report from Mozambique by Félix Pinto, Ema Nassone, Muhammad Ismail, Astrilde Jamisse, Francyne Kubaski, Ana Carolina Brusius-Facchin, Roberto Giugliani, Luís Madeira, Fabíola Fernandes

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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

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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

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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

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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

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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

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Updated birth prevalence and relative frequency of mucopolysaccharidoses across Brazilian regions by Juliana Alves Josahkian, Franciele Barbosa Trapp, Maira Graeff Burin, Kristiane Michelin-Tirelli, Ana Paula Pereira Scholz de Magalhães, Fernanda Medeiros Sebastião, Fernanda Bender, Jurema Fátima De Mari, Ana Carolina Brusius-Facchin, Sandra Leistner-Segal, Diana Rojas Málaga, Roberto Giugliani

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O49: Newborn screening for spinal muscular atrophy using real-time PCR: A pilot study in Brazil by Alice Brinckmann Oliveira Netto, Ana Carolina Brusius Facchin, Julia Lemos, Fernanda Bender Pasetto, Paloma Wiest, Vivian Coutinho, Simone Castro, Juliana Ferreira, Cynthia Silveira, Maria Fernanda Bittar, Francisco Forestiero, Cristina Wang, Janaina Martins de Lana, Marcondes Cavalcante Franca, Jr, Roberto Giugliani

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Experience of the NPC Brazil Network with a Comprehensive Program for the Screening and Diagnosis of Niemann-Pick Disease Type C by Francyne Kubaski, Alberto Burlina, Giulia Polo, Danilo Pereira, Zackary M. Herbst, Camilo Silva, Franciele B. Trapp, Kristiane Michelin-Tirelli, Franciele F. Lopes, Maira G. Burin, Ana Carolina Brusius-Facchin, Alice B. O. Netto, Larissa Faqueti, Gabrielle D. Iop, Edina Poletto, Roberto Giugliani

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Measurement of sulfatides in the amniotic fluid supernatant: A useful tool in the prenatal diagnosis of metachromatic leukodystrophy by Francyne Kubaski, Zackary M. Herbst, Maira Graeff Burin, Kristiane Michelin‐Tirelli, Franciele B. Trapp, Rejane Gus, Alice B. O. Netto, Ana Carolina Brusius‐Facchin, Sandra Leistner‐Segal, Maria Teresa Sanseverino, Carolina Moura Fischinger de Souza, Matheus V. M. B. Wilke, Thiago Oliveira, Jose A. A. Magalhães, Roberto Giugliani

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Gene-environment interactions and preterm birth predictors: A Bayesian network approach by Dario E. Elias, Maria R. Santos, Hebe Campaña, Fernando A. Poletta, Silvina L. Heisecke, Juan A. Gili, Julia Ratowiecki, Viviana R. Cosentino, Rocio Uranga, Diana Rojas Málaga, Alice Brinckmann Oliveira Netto, Ana Carolina Brusius-Facchin, César Saleme, Mónica Rittler, Hugo B. Krupitzki, Jorge S. Lopez Camelo, Lucas G. Gimenez

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Neonatal screening for spinal muscular atrophy: A pilot study in Brazil by Alice Brinckmann Oliveira Netto, Ana Carolina Brusius-Facchin, Júlia F. Lemos, Fernanda B. Pasetto, Carolina S. Brasil, Franciele B. Trapp, Jonas Alex Morales Saute, Karina Carvalho Donis, Michele Michelin Becker, Paloma Wiest, Vivian L. S. Coutinho, Simone Castro, Juliana Ferreira, Cynthia Silveira, Maria Fernanda R. Bittar, Cristina Wang, Janaina M. Lana, Marcondes Cavalcante França Junior, Roberto Giugliani

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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

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Quantification of lysosphingomyelin and lysosphingomyelin-509 for the screening of acid sphingomyelinase deficiency by Francyne Kubaski, Alberto Burlina, Danilo Pereira, Camilo Silva, Zackary M. Herbst, Franciele B. Trapp, Kristiane Michelin-Tirelli, Franciele F. Lopes, Maira G. Burin, Ana Carolina Brusius-Facchin, Alice B. O. Netto, Edina Poletto, Tamires M. Bernardes, Gerson S. Carvalho, Ney B. Sorte, Fernanda N. Ferreira, Nilza Perin, Marta R. Clivati, Marnie T. S. de Santana, Sandra F. G. Lobos, Emilia K. E. A. Leão, Marcelo P. Coutinho, Paola V. Pinos, Maria L. S. F. Santos, Debora A. Penatti, Charles M. Lourenço, Giulia Polo, Roberto Giugliani

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