Relative frequency and estimated minimal frequency of Lysosomal Storage Diseases in Brazil: Report from a Reference Laboratory

por Giugliani, Roberto, Federhen, Andressa, Michelin-Tirelli, Kristiane, Riegel, Mariluce, Burin, Maira
Publicado 2017

COVID-19 impact on the diagnosis of Inborn Errors of Metabolism: Data from a reference center in Brazil

por Sebastião, Fernanda Medeiros, Michelin-Tirelli, Kristiane, Bender, Fernanda, Lopes, Franciele Fátima, Moraes, Inamara, Kubaski, Francyne, Giugliani, Roberto, Burin, Maira
Publicado 2021

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

Mucopolysaccharidosis Type I

por Kubaski, Francyne, de Oliveira Poswar, Fabiano, Michelin-Tirelli, Kristiane, Matte, Ursula da Silveira, Horovitz, Dafne D., Barth, Anneliese Lopes, Baldo, Guilherme, Vairo, Filippo, 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

Rare GBA1 genotype associated with severe bone disease in Gaucher disease type 1

por d'Avila Paskulin, Livia, Starosta, Rodrigo Tzovenos, Zizemer, Vitória Schütt, Basgalupp, Suélen, Bertholdo, Débora, Vairo, Filippo Pinto e, Siebert, Marina, Michelin-Tirelli, Kristiane, Schwartz, Ida Vanessa Doederlein
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

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

Follow-up of pre-motor symptoms of Parkinson’s disease in adult patients with Gaucher disease type 1 and analysis of their lysosomal enzyme profiles in the CSF

por Wilke, Matheus Vernet Machado Bressan, Poswar, Fabiano, Borelli, Wyllians Vendramini, Michelin Tirelli, Kristiane, Randon, Dévora Natalia, Lopes, Franciele Fátima, Pasetto, Fernanda Bender, Sebastião, Fernanda Medeiros, Iop, Gabrielle Dineck, Faqueti, Larissa, da Silva, Layzon Antonio, Kubaski, Francyne, Schuh, Artur Francisco Schumacher, Giugliani, Roberto, Schwartz, Ida Vanessa Doederlein
Publicado 2023

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

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