Gabriela Pasqualim
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Explore the profile of Gabriela Pasqualim including associated specialties, affiliations and a list of published articles.
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24
Citations
254
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Recent Articles
1.
Gong T, Jaratlerdsiri W, Jiang J, Willet C, Chew T, Patrick S, et al.
Genome Med
. 2022 Aug;
14(1):100.
PMID: 36045381
Background: African ancestry is a significant risk factor for advanced prostate cancer (PCa). Mortality rates in sub-Saharan Africa are 2.5-fold greater than global averages. However, the region has largely been...
2.
Jaratlerdsiri W, Jiang J, Gong T, Patrick S, Willet C, Chew T, et al.
Nature
. 2022 Aug;
609(7927):552-559.
PMID: 36045292
Prostate cancer is characterized by considerable geo-ethnic disparity. African ancestry is a significant risk factor, with mortality rates across sub-Saharan Africa of 2.7-fold higher than global averages. The contributing genetic...
3.
Borges P, Pasqualim G, Matte U
Front Mol Biosci
. 2021 Nov;
8:752797.
PMID: 34746235
Mucopolysaccharidosis type I (MPS I) is an autosomal recessive disease characterized by the deficiency of alpha-L-iduronidase (), an enzyme involved in glycosaminoglycan degradation. More than 200 disease-causing variants have been...
4.
Borges P, Pasqualim G, Giugliani R, Vairo F, Matte U
Orphanet J Rare Dis
. 2020 Nov;
15(1):324.
PMID: 33208168
Background: In this study, the prevalence of different types of mucopolysaccharidoses (MPS) was estimated based on data from the exome aggregation consortium (ExAC) and the genome aggregation database (gnomAD). The...
5.
Federhen A, Pasqualim G, Freitas de Freitas T, Gonzalez E, Trapp F, Matte U, et al.
Am J Med Genet A
. 2020 Jan;
182(3):469-483.
PMID: 31926052
Several studies have been published on the frequency of the mucopolysaccharidoses (MPS) in different countries. The objective of the present study was to estimate the birth prevalence (BP) of MPS...
6.
Gonzalez E, Visioli F, Pasqualim G, de Souza C, Marinho D, Giugliani R, et al.
Clin Exp Ophthalmol
. 2020 Jan;
48(3):334-342.
PMID: 31925897
Background: Mucopolysaccharidosis type I (MPS I) is a lysosomal storage disorder caused by α-L-iduronidase deficiency, resulting in accumulation of glycosaminoglycans (GAG). Ophthalmological manifestations are common in MPS I patients and...
7.
Poletto E, Pasqualim G, Giugliani R, Matte U, Baldo G
Genet Mol Biol
. 2019 May;
42(1 suppl 1):261-285.
PMID: 31132295
Lysosomal storage diseases (LSDs) are inherited conditions caused by impaired lysosomal function and consequent substrate storage, leading to a range of clinical manifestations, including cardiovascular disease. This may lead to...
8.
Brusius-Facchin A, Siebert M, Leao D, Malaga D, Pasqualim G, Trapp F, et al.
Genet Mol Biol
. 2019 Apr;
42(1 suppl 1):207-214.
PMID: 30985855
Mucopolysaccharidosis (MPS) are a group of rare genetic disorders caused by deficiency in the activity of specific lysosomal enzymes required for the degradation of glycosaminoglycans (GAGs). A defect in the...
9.
Malaga D, Brusius-Facchin A, Siebert M, Pasqualim G, Saraiva-Pereira M, de Souza C, et al.
Genet Mol Biol
. 2019 Apr;
42(1 suppl 1):197-206.
PMID: 30985853
Lysosomal storage disorders (LSDs) constitute a heterogeneous group of approximately 50 genetic disorders. LSDs diagnosis is challenging due to variability in phenotype penetrance, similar clinical manifestations, and a high allelic...
10.
Schuh R, Bidone J, Poletto E, Pinheiro C, Pasqualim G, Carvalho T, et al.
Pharm Res
. 2018 Sep;
35(11):221.
PMID: 30259180
Purpose: This study demonstrates the nasal administration (NA) of nanoemulsions complexed with the plasmid encoding for IDUA protein (pIDUA) as an attempt to reach the brain aiming at MPS I...