Výsledky vyhledávání - "Karen Barbosa Müller"

Caracterização do atual cenário da divulgação científica brasileira em mídias digitais a partir do levantamento dos perfis de divulgadores científicos

Autor: Karen Barbosa Müller, Lucas Oliveira dos Santos

Publikováno v: Journal of Science Communication América Latina. :A01

A divulgação científica procura estreitar relações entre ciência e população. Para melhor compreendê-la deve-se conhecer o perfil daqueles que se intitulam ``Divulgadores Científicos''. Neste estudo exploratório e descritivo observam-se di

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::5949b289d4743f8720b072d718f8ac23
https://doi.org/10.22323/3.05020201

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Lysosomal integral membrane protein 2 (LIMP-2) restricts the invasion of Trypanosoma cruzi extracellular amastigotes through the activity of the lysosomal enzyme β-glucocerebrosidase

Autor: Viviane Martinelli Gonçalves, Renato A. Mortara, Karen Barbosa Müller, Fernando Real, Vânia D'Almeida

Publikováno v: Microbes and Infection. 16:253-260

Lysosomal integral membrane protein 2 (LIMP-2, SCARB2) is directly linked to β-glucocerebrosidase enzyme (βGC) and mediates the transport of this enzyme from the Golgi complex to lysosomes. Active βGC cleaves the β-glycosidic linkages of glucosyl

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b29efa7d57c69451c3090213198dd45f
https://doi.org/10.1016/j.micinf.2013.11.004

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Evaluation of α-iduronidase in dried blood spots is an accurate tool for mucopolysaccharidosis I diagnosis

Autor: Karen Barbosa Müller, Vanessa Gonçalves Pereira, Ana Maria Martins, Vânia D'Almeida

Publikováno v: Journal of Clinical Laboratory Analysis. 25:251-254

Background: Mucopolysaccharidosis type I (MPS I) is caused by a deficiency of the α‐l‐iduronidase (IDUA), which leads to the accumulation of glycosaminoglycans in lysosomes. MPS I patients present a spectrum ranging from a severe to an attenuate

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::503890ec20c61d00a11cc21a2df29127
https://doi.org/10.1002/jcla.20468

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Brazilian reference values for MPS II screening in dried blood spots — A fluorimetric assay

Autor: Vanessa Gonçalves Pereira, Vânia D'Almeida, Karen Barbosa Müller, Marina Mastelaro de Rezende

Publikováno v: Clinical Biochemistry. 47:1297-1299

Objectives Mucopolysaccharidosis II (MPS II), or Hunter Syndrome, is a lysosomal storage disorder that is caused by the deficiency or absence of iduronate-2-sulfatase (IDS) enzyme; in this disease, early diagnosis is essential to provide higher life

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5f262f4a00dcd165722e5b7f7b97b04b
https://doi.org/10.1016/j.clinbiochem.2014.06.010

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Evaluation of oxidative stress markers and cardiovascular risk factors in Fabry Disease patients

Autor: Ana Maria Martins, Vânia D'Almeida, Luciano Galdieri, Vanessa Gonçalves Pereira, Karen Barbosa Müller

Publikováno v: Genetics and Molecular Biology, Volume: 35, Issue: 2, Pages: 418-423, Published: 17 MAY 2012
Genetics and Molecular Biology v.35 n.2 2012
Genetics and Molecular Biology
Sociedade Brasileira de Genética (SBG)
instacron:SBG
Genetics and Molecular Biology, Vol 35, Iss 2, Pp 418-423 (2012)

Fabry Disease, an X-linked inborn error of metabolism, is characterized by progressive renal insufficiency, with cardio and cerebrovascular involvement. Homocysteine (Hcy) is considered a risk factor for vascular diseases, but the mechanisms by which

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9b15e2b1bb7642ec1abcb2fac8109ea7
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572012000300006&lng=en&tlng=en

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New mutations in the GLA gene in Brazilian families with Fabry disease

Autor: Karen Barbosa Müller, Charles Marques Lourenço, Wilson Marques, Juliana Gilbert Pessoa, João Bosco Pesquero, Fabiana Louise Motta, Lauro Thiago Turaça, Vania D'Almeida, Maria Verônica Munoz Rojas, Ana Maria Martins

Publikováno v: Journal of human genetics. 57(6)

Fabry disease (FD) is an X-linked inborn error of glycosphingolipid catabolism that results from mutations in the alpha-galactosidase A (GLA) gene. Evaluating the enzymatic activity in male individuals usually performs the diagnosis of the disease, b

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aee47c2d15274d710112721201315fa2
https://pubmed.ncbi.nlm.nih.gov/22551898

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Higher frequency of paraoxonase gene polymorphism and cardiovascular impairment among Brazilian Fabry Disease patients

Autor: Karen Barbosa Müller, Ana Maria Martins, A.C. Barris-Oliveira, Lauro Thiago Turaça, João Bosco Pesquero, Vânia D'Almeida

Publikováno v: Clinical biochemistry. 45(16-17)

Objectives Paraoxonase (PON1) plays a role in preventing the oxidation of lipoproteins and protecting against atherosclerosis. Several polymorphisms have been described in the gene encoding this enzyme, which are related to different enzymatic activi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9ab19c82a77bbcb17638a4d852aa1e22
https://pubmed.ncbi.nlm.nih.gov/22796398

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Reference values for lysosomal enzymes activities using dried blood spots samples - a Brazilian experience

Autor: Karen Barbosa Müller, Ana Maria Martins, Vânia D'Almeida, Vanessa Gonçalves Pereira, Mayra D.B. Rodrigues

Publikováno v: Diagnostic Pathology, Vol 5, Iss 1, p 65 (2010)
Diagnostic Pathology

Background Lysosomal storage diseases (LSD) are inherited disorders caused by deficiency of lysosomal enzymes in which early diagnosis is essential to provide timely treatment. This study reports interval values for the activity of lysosomal enzymes

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::52b79adc919ba78c7338caf55c1e770d
https://doi.org/10.1186/1746-1596-5-65

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Chitotriosidase determination in plasma and in dried blood spots: a comparison using two different substrates in a microplate assay

Autor: Ana Maria Martins, Vânia D'Almeida, Allan Chiaratti de Oliveira, Mayra D.B. Rodrigues, Karen Barbosa Müller

Publikováno v: Clinica chimica acta; international journal of clinical chemistry. 406(1-2)

Background Chitotriosidase (CT) is a macrophage glycosylhydrolase referred as a biochemical marker on diagnosis and prognosis for Gaucher Disease (GD). The aim of the study was to validate a microplate assay for plasma and dried blood spots on filter

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4975afe4220408a5b3cb43939d428bdc
https://pubmed.ncbi.nlm.nih.gov/19501579

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