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

Precision Medicine for Lysosomal Disorders

por Pinto e Vairo, Filippo, Rojas Málaga, Diana, Kubaski, Francyne, Fischinger Moura de Souza, Carolina, de Oliveira Poswar, Fabiano, Baldo, Guilherme, Giugliani, Roberto
Publicado 2020

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

MLPA followed by target‐NGS to detect mutations in the dystrophin gene of Peruvian patients suspected of DMD/DMB

por Guevara‐Fujita, María Luisa, Huaman‐Dianderas, Francia, Obispo, Daisy, Sánchez, Rodrigo, Barrenechea, Victor, Rojas‐Málaga, Diana, Estrada‐Cuzcano, Alejandro, Trubnykova, Milana, Cornejo‐Olivas, Mario, Marca, Victoria, Gallardo, Bertha, Dueñas‐Roque, Milagros, Protzel, Ana, Castañeda, Carlos, Abarca, Hugo, Celis, Luis, La Serna‐Infantes, Jorge, Fujita, Ricardo
Publicado 2021

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