Diana Rojas Málaga

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

Heydy Bravo, Eurico Camargo Neto, Jaqueline Schulte et al. · Molecular Genetics and Metabolism Reports · 2017 · 35 citations · Full text

Sensitivity, advantages, limitations, and clinical utility of targeted next-generation sequencing panels for the diagnosis of selected lysosomal storage disorders

Diana Rojas Málaga, Ana Carolina Brusius‐Facchin, Marina Siebert et al. · Genetics and Molecular Biology · 2019 · 35 citations · Full text

Genetics, Genetic Epidemiology, Pathology +19

Updated birth prevalence and relative frequency of mucopolysaccharidoses across Brazilian regions

Juliana Alves Josahkian, Franciele Barbosa Trapp, Maira Graeff Burin et al. · Genetics and Molecular Biology · 2021 · 26 citations · Full text

Genetic Testing, Genetic Epidemiology, Pathology +22

Phenotype-oriented NGS panels for mucopolysaccharidoses: Validation and potential use in the diagnostic flowchart

Ana Carolina Brusius‐Facchin, Marina Siebert, Delva Pereira Leão et al. · Genetics and Molecular Biology · 2019 · 19 citations · Full text

Genetics, Immunology, Diagnosis +20

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

María L. Guevara, Francia Huaman‐Dianderas, Daisy Obispo et al. · Molecular Genetics & Genomic Medicine · 2021 · 10 citations · Full text