Kristiane Michelin‐Tirelli

Lysosomal diseases: Overview on current diagnosis and treatment

Fabiano de Oliveira Poswar, Filippo Pinto e Vairo, Maira Graeff Burin et al. · Genetics and Molecular Biology · 2019 · 55 citations · Full text

Protein Deficiencies, Enzyme Replacement Therapy, Genetics +18

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

Roberto Giugliani, Andressa Federhen, Kristiane Michelin‐Tirelli et al. · Genetics and Molecular Biology · 2017 · 54 citations · Full text

Specific Enzyme Assays, Genetic Epidemiology, Diagnosis +20

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

Molecular and biochemical biomarkers for diagnosis and therapy monitorization of Niemann‐Pick type C patients

Tatiane Grazieli Hammerschmidt, Graziela De Luca Canto, Maria Luiza Saraiva Pereira et al. · International Journal of Developmental Neuroscience · 2017 · 28 citations

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