Zobrazeno 1 - 10
of 11
pro vyhledávání: '"Regis Rolim Guidobono"'
Autor:
Fernanda Machado Bittencourt, Jaqueline Schulte, Kristiane Michelin-Tirelli, Carolina Fischinger Moura de Souza, Eurico Camargo Neto, Franciele Barbosa Trapp, Jamile Pereira, Roberto Giugliani, Gabriela Pasqualim, Ana Paula Pereira Scholz de Magalhães, Ana Carolina Brusius-Facchin, Diana Rojas Málaga, Heydy Bravo, Fernanda Bender, Claudio Sampaio Filho, Regis Rolim Guidobono, Fernanda Medeiros Sebastião
Publikováno v:
Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports, Vol 12, Iss C, Pp 92-97 (2017)
Molecular Genetics and Metabolism Reports, Vol 12, Iss C, Pp 92-97 (2017)
Lysosomal storage diseases (LSDs) are genetic disorders, clinically heterogeneous, mainly caused by defects in genes encoding lysosomal enzymes that degrade macromolecules. Several LSDs already have specific therapies that may improve clinical outcom
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::40cb2275ee9485bbf89e89de7ce29a7a
https://doi.org/10.1016/j.ymgmr.2017.06.006
https://doi.org/10.1016/j.ymgmr.2017.06.006
Autor:
Mercedes Picarelli, Carolina Fischinger Moura de Souza, Maira Graeff Burin, Paulo Arlei Lompa, Ilóite Scheibel, Thabata Caroline da Rocha Siqueira, Regis Rolim Guidobono, Roberto Giugliani, Fernanda Bender
Publikováno v:
JIMD Reports ISBN: 9783662498323
The mucopolysaccharidoses (MPS) are a group of 11 inborn errors of metabolism (IEM) which are part of the lysosomal storage diseases (LSDs). The MPS are multisystemic conditions that affect the entire body, with variations in the clinical presentatio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4570a6b705828ea4b0fad5c8bc994928
https://doi.org/10.1007/8904_2015_484
https://doi.org/10.1007/8904_2015_484
Autor:
Maira Graeff Burin, Giorgia Marasca, J. De Mari, Fernanda Bender, Regis Rolim Guidobono, Roberto Giugliani, Andressa Gomes, Gabriel Civallero
Publikováno v:
Clinica Chimica Acta. 415:334-336
Background The mucopolysaccharidoses (MPS) are inherited metabolic disorders with bone, joint, and visceral abnormalities, leading to multi-organ dysfunction and, sometimes, neurological manifestations. These diseases are caused by storage of glycosa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7c2198fbf97ae3de14564e02a2975cb0
https://doi.org/10.1016/j.cca.2012.11.009
https://doi.org/10.1016/j.cca.2012.11.009
Autor:
Regis Rolim Guidobono, Jamile Pereira, Diana E Rojas-Málaga, Ursula da Silveira Matte, Fernanda Hendges de Bitencourt, Maira Graeff Burin, Roberto Giugliani, Heydy V Bravo-Villalta, Ana Carolina Brusius-Facchin, Gabriela Pasqualim, Fernanda Medeiros Sebastião, Jaqueline Schulte, Eurico Camargo Neto, Claudio Sampaio-Filho
Publikováno v:
Molecular Genetics and Metabolism. 120:S31
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::888f80b354dcaf7b7290997a4fc76230
https://doi.org/10.1016/j.ymgme.2016.11.051
https://doi.org/10.1016/j.ymgme.2016.11.051
Autor:
Jurema Fatima de Mari, Ursula da Silveira Matte, Andressa Federhen, Fabiano de Oliveira Poswar, Fernanda Bitencourt, Regis Rolim Guidobono, Franciele Barbosa Trapp, Roberto Giugliani, Ana Carolina Brusius Facchin, Daniele Lima Rocha, Sandra Leistner-Segal, Laysla Pedelhes Silva, Heluísa Castagnino da Rosa, Maira Graeff Burin
Publikováno v:
Molecular Genetics and Metabolism. 120:S45
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3b7276f2b23af95eb639c185709400f1
https://doi.org/10.1016/j.ymgme.2016.11.092
https://doi.org/10.1016/j.ymgme.2016.11.092
Autor:
Regis Rolim Guidobono, Maria Heloisa Degrazia Pestana, Sayonara Bresolin Migliavacca, Andréa Cássia de Melo, I. C. Ferreira, Rubem Cesar Horn, Vera Maria Ferrão Vargas
Publikováno v:
Mutation Research/Genetic Toxicology and Environmental Mutagenesis. 490:141-158
The genotoxicity of river water and sediment including interstitial water was evaluated by microscreen phage-induction and Salmonella/microsome assays. Different processes used to fractionate the sediment sample were compared using solvents with diff
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d8194671f1df623a6e44fa5e21355b7d
https://doi.org/10.1016/s1383-5718(00)00159-5
https://doi.org/10.1016/s1383-5718(00)00159-5
Publikováno v:
Memórias do Instituto Oswaldo Cruz., Vol 86, Pp 67-70 (1991)
Memórias do Instituto Oswaldo Cruz, Volume: 86 Supplement 2, Pages: 67-70, Published: 1991
Memórias do Instituto Oswaldo Cruz, Volume: 86 Supplement 2, Pages: 67-70, Published: 1991
Aqueous extracts of seven species used in Brazilian popular medicine (Achyrocline satureoides, Iodina rhombifolia, Desmodium incanum, Baccharis anomala, Tibouchina asperior, Luehea divaricata, Maytenus ilicifolia) were screened to the presence of mut
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::24efe26105a56f00ded16c8645846ddf
https://doi.org/10.1590/s0074-02761991000600017
https://doi.org/10.1590/s0074-02761991000600017
Autor:
Marly Aparecida Spadotto Balarin, Francyne Kubaski, Ana Carolina Brusius-Facchin, Heloísa M.C. Palhares, Regis Rolim Guidobono, Maira Graeff Burin, Marli Viapiana-Camelier, Sandra Leistner-Segal, Roberto Giugliani
Publikováno v:
Molecular Genetics and Metabolism. 108:S59-S60
Mucopolysaccharidosis type IVA (MPS IVA) or Morquio syndrome type A is an autosomal recessive disease caused by deficiency of the lysosomal enzyme N-acetylgalactosamine-6-sulfatase (GALNS). We report molecular characterization of a patient who presen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1391ba19e00a127695c84d8a238e9f9a
https://doi.org/10.1016/j.ymgme.2012.11.148
https://doi.org/10.1016/j.ymgme.2012.11.148
Autor:
Ana Mittelstaedt, Rubem Cesar Horn, Vera Maria Ferrão Vargas, Irascema Girardi de Azevedo, Regis Rolim Guidobono
Publikováno v:
Genetics and Molecular Biology v.21 n.2 1998
Genetics and Molecular Biology
Sociedade Brasileira de Genética (SBG)
instacron:SBG
Genetics and Molecular Biology, Volume: 21, Issue: 2, Pages: 247-253, Published: JUN 1998
Genetics and Molecular Biology, Vol 21, Iss 2, p 247 (1998)
Genetics and Molecular Biology
Sociedade Brasileira de Genética (SBG)
instacron:SBG
Genetics and Molecular Biology, Volume: 21, Issue: 2, Pages: 247-253, Published: JUN 1998
Genetics and Molecular Biology, Vol 21, Iss 2, p 247 (1998)
The mutagenic activity of airborne particulate matter collected from three different sites within the urban area of Porto Alegre, Brazil, was investigated using a Salmonella/microsome assay. Samples were extracted by sonication, sequentially, with cy
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::12643935337a3a2cb22da35cff319cf8
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47571998000200013
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47571998000200013
Publikováno v:
Mutation research. 343(1)
The genotoxicity of river water samples was evaluated by the Salmonella mutagenicity assay and by the microscreen phage-induction assay. Different processes of sample treatment were compared using the following assays: different volumes of a non-conc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b8268f488ad4f9b49e0fe008a9bc96ba
https://pubmed.ncbi.nlm.nih.gov/7753105
https://pubmed.ncbi.nlm.nih.gov/7753105