Maira Burin
Overview
Explore the profile of Maira Burin including associated specialties, affiliations and a list of published articles.
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Articles
19
Citations
206
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0
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Recent Articles
1.
Sebastiao F, Michelin-Tirelli K, Bender F, Lopes F, Moraes I, Kubaski F, et al.
Genet Mol Biol
. 2021 Dec;
45(1):e20210253.
PMID: 34927665
The COVID-19 pandemic led to the reorganization of health care in several countries, including Brazil. Inborn Errors of Metabolism (IEM) are a group of rare and difficult to diagnose genetic...
2.
Pino G, Conboy E, Tortorelli S, Minnich S, Nickander K, Lacey J, et al.
Mol Genet Metab
. 2019 Nov;
129(2):106-110.
PMID: 31753749
Purpose: To describe an efficient and effective multiplex screening strategy for sulfatide degradation disorders and mucolipidosis type II/III (MLII/III) using 3 mL of urine. Methods: Glycosaminoglycans were analyzed by liquid...
3.
de Oliveira Poswar F, Vairo F, Burin M, Michelin-Tirelli K, Brusius-Facchin A, Kubaski F, et al.
Genet Mol Biol
. 2019 May;
42(1 suppl 1):165-177.
PMID: 31067291
Lysosomal diseases (LDs), also known as lysosomal storage diseases (LSDs), are a heterogeneous group of conditions caused by defects in lysosomal function. LDs may result from deficiency of lysosomal hydrolases,...
4.
Giugliani R, Bender F, Couto R, Bochernitsan A, Brusius-Facchin A, Burin M, et al.
Genet Mol Biol
. 2019 Apr;
42(1 suppl 1):312-320.
PMID: 30985854
Rare genetic disorders are currently in the spotlight due to the elevated number of different conditions and significant total number of affected patients. The study of these disorders is extremely...
5.
Giugliani R, Federhen A, Michelin-Tirelli K, Riegel M, Burin M
Genet Mol Biol
. 2017 Mar;
40(1):31-39.
PMID: 28304074
Lysosomal storage diseases (LSDs) comprise a heterogeneous group of more than 50 genetic conditions of inborn errors of metabolism (IEM) caused by a defect in lysosomal function. Although there are...
6.
Vairo F, Federhen A, Baldo G, Riegel M, Burin M, Leistner-Segal S, et al.
Appl Clin Genet
. 2015 Nov;
8:245-55.
PMID: 26586959
Mucopolysaccharidosis VI (MPS VI) is a very rare autosomal recessive disorder caused by mutations in the ARSB gene, which lead to deficient activity of the lysosomal enzyme ASB. This enzyme...
7.
Alegra T, Koppe T, Acosta A, Sarno M, Burin M, Kessler R, et al.
Meta Gene
. 2015 Jan;
2:403-6.
PMID: 25606425
Mucolipidosis II alpha/beta is an autosomal recessive disorder caused by deficient activity of GlcNAc-1-phosphotransferase. We report the prenatal diagnosis of a fetus who was found to exhibit normal levels of...
8.
Moreno C, Kanazawa T, Barini R, Nomura M, Andrade K, Gomes C, et al.
Am J Med Genet A
. 2013 Sep;
161A(12):3078-86.
PMID: 24039125
Non-immune hydrops fetalis (NIHF) is a symptom caused by a heterogeneous group of conditions. Diagnostic investigations may constitute a real challenge. This study aimed to evaluate prospectively and systematically a...
9.
Vairo F, Netto C, Michelin Tirelli K, Siebert M, Burin M, Saraiva-Pereira M, et al.
Gene
. 2013 Apr;
523(1):114-5.
PMID: 23566842
No abstract available.
10.
Sperb F, Vairo F, Burin M, Mayer F, Matte U, Giugliani R
Gene
. 2012 Oct;
512(1):113-6.
PMID: 23046582
GM1 gangliosidosis is a lysosomal disorder caused by β-galactosidase deficiency due to mutations in the GLB1 gene. It is a rare neurodegenerative disorder with an incidence of about 1:100,000-1:200,000 live...