Ana Carolina Brusius‐Facchin

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

Mucopolysaccharidosis type II: Identification of 30 novel mutations among Latin American patients

Ana Carolina Brusius‐Facchin, Ida Vanessa Döederlein Schwartz, Constantin Zimmer et al. · Molecular Genetics and Metabolism · 2013 · 46 citations · Full text

Novel Mutations, Pathology, Mucopolysaccharidosis Type Ii +3

Intragenic variants in the <i>SMN1</i> gene determine the clinical phenotype in 5q spinal muscular atrophy

Rodrigo de Holanda Mendonça, Ciro Matsui, Graziela Jorge Polido et al. · Neurology Genetics · 2020 · 42 citations · Full text

Val66Met polymorphism association with serum BDNF and inflammatory biomarkers in major depression

Marco Antônio Caldieraro, Madison McKee, Sandra Leistner‐Segal et al. · The World Journal of Biological Psychiatry · 2017 · 37 citations

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