Zobrazeno 1 - 10
of 18
pro vyhledávání: '"M. Clara Sá Miranda"'
Autor:
Emanuel Correia, Joana Vidinha, Bruno Rodrigues, Luís Santos, Davide Moreira, Jesus Garrido, M. Clara Sá Miranda, Costa Cabral, Oliveira Santos
Publikováno v:
Revista Portuguesa de Cardiologia, Vol 30, Iss 10, Pp 789-793 (2011)
Resumo: A doença de Fabry é causada por acumulação intracelular de glicoesfingolipidos em vários tecidos, secundária a mutações no gene GLA (Xq22).Classicamente descrita como afectando homens hemizigotos sem actividade residual de alfa-galact
Externí odkaz:
https://doaj.org/article/270ef7f72206474188ff4a21f1e511a8
Autor:
M. Clara Sá Miranda, Davide Moreira, Emanuel Correia, Jesus Garrido, Luís Santos, Bruno Rodrigues, Oliveira Santos, Costa Cabral, Joana Vidinha
Publikováno v:
Revista Portuguesa de Cardiologia, Vol 30, Iss 10, Pp 789-793 (2011)
Resumo: A doença de Fabry é causada por acumulação intracelular de glicoesfingolipidos em vários tecidos, secundária a mutações no gene GLA (Xq22).Classicamente descrita como afectando homens hemizigotos sem actividade residual de alfa-galact
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e1bac4482fd85090722e8e41c5d7488a
http://www.sciencedirect.com/science/article/pii/S0870255111700270
http://www.sciencedirect.com/science/article/pii/S0870255111700270
Autor:
M. Clara Sá Miranda, Oliveira Santos, Costa Cabral, Emanuel Correia, Joana Vidinha, Bruno Rodrigues, Luís Santos, Jesus Garrido, Davide Moreira
Publikováno v:
Revista Portuguesa de Cardiologia (English Edition), Vol 30, Iss 10, Pp 789-793 (2011)
Fabry disease is caused by intracellular accumulation of glycosphingolipids in various tissues, secondary to mutations in the GLA gene (Xq22).Classically described as affecting hemizygous males with no residual alpha-galactosidase A activity, it is n
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9f414058006f1d7a1b513c272d4b8831
http://www.sciencedirect.com/science/article/pii/S2174204911700277
http://www.sciencedirect.com/science/article/pii/S2174204911700277
Autor:
Robert D. Steiner, David Ketteridge, Roberto Giugliani, Paige Kaplan, J. Edmond Wraith, Laila Arash, Elisa Leão Teles, Paul Harmatz, John Joseph Hopwood, Zi Fan Yu, Ida Vanessa Ida, Chester B. Whitley, Maurizio Scarpa, Barbara Plecko, Nathalie Guffon, Celeste Decker, M. Clara Sá Miranda, Stuart J. Swiedler, Michael Beck
Publikováno v:
Molecular Genetics and Metabolism. 94:469-475
The objective of this study was to evaluate the long-term clinical benefits and safety of recombinant human arylsulfatase B (rhASB) treatment of mucopolysaccharidosis type VI (MPS VI: Maroteaux-Lamy syndrome), a lysosomal storage disease. Fifty-six p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::46e96122a2307b6b0a659c1f867a7ac9
https://doi.org/10.1016/j.ymgme.2008.04.001
https://doi.org/10.1016/j.ymgme.2008.04.001
Autor:
Ida Vanessa Doederlein Schwartz, Nathalie Guffon, M. Clara Sá Miranda, David Ketteridge, Jane Roberts, Elisa Leão Teles, Kenneth I. Berger, Cheri Piscia-Nichols, John J. Hopwood, Roberto Giugliani, Stuart J. Swiedler, Manal Bajbouj, Paul Harmatz, Michael Beck, James E. Wraith
Publikováno v:
American Journal of Medical Genetics Part A. :144-150
A cross-sectional survey in individuals affected with the lysosomal storage disease Mucopolysaccharidosis VI (MPS VI) was conducted to establish demographics, urinary glycosaminoglycan (GAG) levels, and clinical progression of the disease. The survey
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c3d7d88aad9441e125662006038dcdde
https://doi.org/10.1002/ajmg.a.30579
https://doi.org/10.1002/ajmg.a.30579
Autor:
M. Clara Sá-Miranda, Daniel Caiola, João Chaves, Andrea Balreira, José Lopes Lima, Idalina Beirão, Paulo Gaspar
Publikováno v:
Seizure. 20:738-740
Action myoclonus-renal failure syndrome (AMRF) is considered a rare form of progressive myoclonus epilepsy (PME) associated with renal failure. A mutation on the gene encoding the lysosomal integral membrane protein type 2-LIMP-2 (SCARB2), the recept
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::339a2ece9e4f5c0bb497f66c313fd079
https://doi.org/10.1016/j.seizure.2011.06.018
https://doi.org/10.1016/j.seizure.2011.06.018
Publikováno v:
Medical Imaging: Image Processing
This paper describes a segmentation method for automating the region of interest (ROI) delineation in chromatographic images, thus allowing the definition of the image area that contains the fundamental information for further processing while exclud
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a6fc414ae1dc4ee6bb4bfe5df8919ef8
https://doi.org/10.1117/12.877671
https://doi.org/10.1117/12.877671
Publikováno v:
Lecture Notes in Computer Science ISBN: 9783642215957
ICIAR (2)
ICIAR (2)
This paper proposes a classification-based method for automating the segmentation of the region of interest (ROI) in digital images of chromatographic plates. Image segmentation is performed in two phases. In the first phase an unsupervised learning
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::97d0641d9c26a876b4400b14a06db333
https://doi.org/10.1007/978-3-642-21596-4_8
https://doi.org/10.1007/978-3-642-21596-4_8
Autor:
M. Clara Sá-Miranda, João Paulo Oliveira, Fátima Carneiro, Sandra Relvas, Carmen Valbuena, Lorena G. Rodrigues, Mariana Ganhão
Publikováno v:
Virchows Archiv : an international journal of pathology. 458(4)
Fabry disease is a rare X-linked disorder caused by mutations in the α-galactosidase gene (GLA), the resultant deficiency of lysosomal α-galactosidase enzyme activity leading to systemic accumulation of globotriaosylceramide and other glycosphingol
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::be54982fb46a1d160b22fd80bf6be934
https://pubmed.ncbi.nlm.nih.gov/21328014
https://pubmed.ncbi.nlm.nih.gov/21328014
Autor:
Ida Vanessa Doederlein Schwartz, David Ketteridge, Kenneth I. Berger, Celeste Decker, Elisa Leão Teles, Nathalie Guffon, Paige Kaplan, Barbara Plecko, John Joseph Hopwood, Paul Harmatz, Stuart J. Swiedler, Laila Arash, Robert D. Steiner, Michael Beck, Karen A. Hardy, Roberto Giugliani, M. Clara Sá Miranda, J. Edmond Wraith, Zi Fan Yu, Chester B. Whitley, Maurizio Scarpa
Publikováno v:
Journal of inherited metabolic disease, vol 33, iss 1
Journal of Inherited Metabolic Disease
Journal of Inherited Metabolic Disease
Pulmonary function is impaired in untreated mucopolysaccharidosis type VI (MPS VI). Pulmonary function was studied in patients during long-term enzyme replacement therapy (ERT) with recombinant human arylsulfatase B (rhASB; rhN-acetylgalactosamine 4-
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5b8dd773690fb2a897f9b01fc750b6a7
https://escholarship.org/uc/item/4t54x90c
https://escholarship.org/uc/item/4t54x90c