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

Detección de la mutación E8SJM en el gen LIPA, por PCR en tiempo real, para la investigación de la enfermedad por almacenamiento de ésteres de colesterol

by Diana Rojas Málaga, Ursula Matte, Carlos Thadeu Schmidt Cerski, Roberto Giugliani
Published 2018-03-01

Detección de mutaciones causantes de distrofia muscular de Duchenne/Becker: reacción en cadena de la polimerasa multiplex vs. amplificación múltiple dependiente de ligación por son...

by Francia DP Huaman-Dianderas, María Luisa Guevara-Fujita, DIana Rojas Málaga, Alejandro Estrada-Cuzcano, Ricardo Fujita
Published 2019-08-01

Precision Medicine for Lysosomal Disorders

by Filippo Pinto e Vairo, Diana Rojas Málaga, Francyne Kubaski, Carolina Fischinger Moura de Souza, Fabiano de Oliveira Poswar, Guilherme Baldo, Roberto Giugliani
Published 2020-07-01

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

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

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

by María Luisa Guevara‐Fujita, Francia Huaman‐Dianderas, Daisy Obispo, Rodrigo Sánchez, Victor Barrenechea, Diana Rojas‐Málaga, Alejandro Estrada‐Cuzcano, Milana Trubnykova, Mario Cornejo‐Olivas, Victoria Marca, Bertha Gallardo, Milagros Dueñas‐Roque, Ana Protzel, Carlos Castañeda, Hugo Abarca, Luis Celis, Jorge La Serna‐Infantes, Ricardo Fujita
Published 2021-09-01

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