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

por Rojas Malaga, Diana, Leistner-Segal, Sandra, Brusius-Facchin, Ana Carolina
Publicado 2019

Detection of Mosaic Variants in Mothers of MPS II Patients by Next Generation Sequencing

por Oliveira Netto, Alice Brinckmann, Brusius-Facchin, Ana Carolina, Leistner-Segal, Sandra, Kubaski, Francyne, Josahkian, Juliana, Giugliani, Roberto
Publicado 2021

Increased Serum Levels of miR-125b and miR-132 in Fragile X Syndrome: A Preliminary Study

por Couto, Rowena Rubim, Kubaski, Francyne, Siebert, Marina, Félix, Têmis Maria, Brusius-Facchin, Ana Carolina, Leistner-Segal, Sandra
Publicado 2022

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

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

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

Diagnosis of Mucopolysaccharidoses

por Kubaski, Francyne, de Oliveira Poswar, Fabiano, Michelin-Tirelli, Kristiane, Burin, Maira Graeff, Rojas-Málaga, Diana, Brusius-Facchin, Ana Carolina, Leistner-Segal, Sandra, Giugliani, Roberto
Publicado 2020

Lysosomal diseases: Overview on current diagnosis and treatment

por Poswar, Fabiano de Oliveira, Vairo, Filippo, Burin, Maira, Michelin-Tirelli, Kristiane, Brusius-Facchin, Ana Carolina, Kubaski, Francyne, de Souza, Carolina Fischinger Moura, Baldo, Guilherme, Giugliani, Roberto
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

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

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

Clinical findings in Brazilian patients with adult GM1 gangliosidosis

por Giugliani, Luciana, Steiner, Carlos Eduardo, Kim, Chong Ae, Lourenço, Charles Marques, Santos, Mara Lucia Schmitz Ferreira, de Souza, Carolina Fischinger Moura, Brusius‐Facchin, Ana Carolina, Baldo, Guilherme, Riegel, Mariluce, 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

Molecular basis of mucopolysaccharidosis IVA (Morquio A syndrome): A review and classification of GALNS gene variants and reporting of 68 novel variants

por Zanetti, Alessandra, D'Avanzo, Francesca, AlSayed, Moeenaldeen, Brusius‐Facchin, Ana Carolina, Chien, Yin‐Hsiu, Giugliani, Roberto, Izzo, Emanuela, Kasper, David C., Lin, Hsiang‐Yu, Lin, Shuan‐Pei, Pollard, Laura, Singh, Akashdeep, Tonin, Rodolfo, Wood, Tim, Morrone, Amelia, Tomanin, Rosella
Publicado 2021

Experience of the NPC Brazil Network with a Comprehensive Program for the Screening and Diagnosis of Niemann-Pick Disease Type C

por Kubaski, Francyne, Burlina, Alberto, Polo, Giulia, Pereira, Danilo, Herbst, Zackary M., Silva, Camilo, Trapp, Franciele B., Michelin-Tirelli, Kristiane, Lopes, Franciele F., Burin, Maira G., Brusius-Facchin, Ana Carolina, Netto, Alice B. O., Faqueti, Larissa, Iop, Gabrielle D., Poletto, Edina, Giugliani, Roberto
Publicado 2022

Investigation of newborns with abnormal results in a newborn screening program for four lysosomal storage diseases in Brazil

por Bravo, Heydy, Neto, Eurico Camargo, Schulte, Jaqueline, Pereira, Jamile, Filho, Claudio Sampaio, Bittencourt, Fernanda, Sebastião, Fernanda, Bender, Fernanda, de Magalhães, Ana Paula Scholz, Guidobono, Régis, Trapp, Franciele Barbosa, Michelin-Tirelli, Kristiane, Souza, Carolina F.M., Rojas Málaga, Diana, Pasqualim, Gabriela, Brusius-Facchin, Ana Carolina, Giugliani, Roberto
Publicado 2017

Measurement of sulfatides in the amniotic fluid supernatant: A useful tool in the prenatal diagnosis of metachromatic leukodystrophy

por Kubaski, Francyne, Herbst, Zackary M., Burin, Maira Graeff, Michelin‐Tirelli, Kristiane, Trapp, Franciele B., Gus, Rejane, Netto, Alice B. O., Brusius‐Facchin, Ana Carolina, Leistner‐Segal, Sandra, Sanseverino, Maria Teresa, de Souza, Carolina Moura Fischinger, Wilke, Matheus V. M. B., Oliveira, Thiago, Magalhães, Jose A. A., Giugliani, Roberto
Publicado 2022

Population medical genetics: translating science to the community

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

Quantification of lysosphingomyelin and lysosphingomyelin-509 for the screening of acid sphingomyelinase deficiency

por Kubaski, Francyne, Burlina, Alberto, Pereira, Danilo, Silva, Camilo, Herbst, Zackary M., Trapp, Franciele B., Michelin-Tirelli, Kristiane, Lopes, Franciele F., Burin, Maira G., Brusius-Facchin, Ana Carolina, Netto, Alice B. O., Poletto, Edina, Bernardes, Tamires M., Carvalho, Gerson S., Sorte, Ney B., Ferreira, Fernanda N., Perin, Nilza, Clivati, Marta R., de Santana, Marnie T. S., Lobos, Sandra F. G., Leão, Emilia K. E. A., Coutinho, Marcelo P., Pinos, Paola V., Santos, Maria L. S. F., Penatti, Debora A., Lourenço, Charles M., Polo, Giulia, Giugliani, Roberto
Publicado 2022

Intragenic variants in the SMN1 gene determine the clinical phenotype in 5q spinal muscular atrophy

por Mendonça, Rodrigo de Holanda, Matsui, Ciro, Polido, Graziela Jorge, Silva, André Macedo Serafim, Kulikowski, Leslie, Torchio Dias, Alexandre, Zanardo, Evelin Aline, Solla, Davi Jorge Fontoura, Gurgel-Giannetti, Juliana, de Moura, Ana Carolina Monteiro Lessa, Sampaio, Gabriela Palhares Campolina, Oliveira, Acary Souza Bulle, de Souza, Paulo Victor Sgobbi, Pinto, Wladimir Bocca Vieira de Rezende, Gonçalves, Eduardo Augusto, Farias, Igor Braga, Nardes, Flávia, Araújo, Alexandra Prufer de Queiroz Campos, Marques, Wilson, Tomaselli, Pedro José, Ribeiro, Mara Dell Ospedale, Kitajima, João Paulo, Paoli Monteiro, Fabíola, Saute, Jonas Alex Morales, Becker, Michele Michelin, Saraiva-Pereira, Maria Luiza, Brusius-Facchin, Ana Carolina, van der Linden, Vanessa, Florêncio, Rodrigo Neves, Barbosa, André Vinícius Soares, Machado-Costa, Marcela Camara, Pessoa, André Luiz Santos, Souza, Leticia Silva, Franca, Marcondes Cavalcante, Kok, Fernando, Reed, Umbertina Conti, Zanoteli, Edmar
Publicado 2020