Concepedia

Ana Carolina Brusius‐Facchin

AC

Statistics

Publications

20

Citations

488

H-Index

14

Active since

2010

Affiliations

Universidade Federal do Rio Grande do Sul(Current)

Hospital de Clínicas de Porto Alegre

National Institute on Population Medical Genetics

Universidade Estadual de Campinas (UNICAMP)

Fundação Oswaldo Cruz

Ana Carolina Brusius‐Facchin is an author at Universidade Federal do Rio Grande do Sul specializing in genetics, genetic disorders, and medical genetics.

ORCID

Publications per year

2010–2023

20

Publications

20

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 · 56 citations · Full text

, , +17

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 · 49 citations · Full text

, , +8

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 · 46 citations · Full text

, , +17

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

, , +16

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

, , +16

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