Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Cláudia Rafaela Cecchin"'
Autor:
Ursula da Silveira Matte, Laura Bannach Jardim, Roberto Giugliani, Cristina Brinckmann Oliveira Netto, Maira Graeff Burin, Cláudia Rafaela Cecchin, Fernanda dos Santos Pereira
Publikováno v:
Repositório Institucional da UFRGS
Universidade Federal do Rio Grande do Sul (UFRGS)
instacron:UFRGS
Universidade Federal do Rio Grande do Sul (UFRGS)
instacron:UFRGS
Fabry disease is an X-linked lysosomal disorder due to a-galactosidase A deficiency that causes storage of globotriaosylceramide. The gene coding for this lysosomal enzyme is located on the long arm of the X chromosome, in region Xq21.33-Xq22. Diseas
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a7af4d1c7915701158e453743f1f550a
https://doi.org/10.1590/s0100-879x2006005000138
https://doi.org/10.1590/s0100-879x2006005000138
Autor:
Luciane Kalakun, Cláudia Rafaela Cecchin, Roberto Giugliani, Ursula da Silveira Matte, Laura Bannach Jardim, Cristina Brinckmann Oliveira Netto, Cláudio de Faria Pitta-Pinheiro, Fernanda dos Santos Pereira, Leonardo Modesti Vedolin, Flávio Franciosi Aesse, João Marconato, Maira Graeff Burin
Publikováno v:
Arquivos de Neuro-Psiquiatria v.64 n.3b 2006
Arquivos de neuro-psiquiatria
Academia Brasileira de Neurologia
instacron:ABNEURO
Arquivos de Neuro-Psiquiatria, Volume: 64, Issue: 3b, Pages: 711-717, Published: SEP 2006
Repositório Institucional da UFRGS
Universidade Federal do Rio Grande do Sul (UFRGS)
instacron:UFRGS
Arquivos de neuro-psiquiatria
Academia Brasileira de Neurologia
instacron:ABNEURO
Arquivos de Neuro-Psiquiatria, Volume: 64, Issue: 3b, Pages: 711-717, Published: SEP 2006
Repositório Institucional da UFRGS
Universidade Federal do Rio Grande do Sul (UFRGS)
instacron:UFRGS
PURPOSE: To report the clinical and neuroimaging, central nervous system (CNS) findings of patients with Fabry disease (FD) during 24 months of enzyme replacement therapy (ERT) with agalsidase-alpha. METHOD: Eight patients were included. Six complete
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::510be8815c618f8e71430331df171db7
https://doi.org/10.1590/s0004-282x2006000500002
https://doi.org/10.1590/s0004-282x2006000500002
Autor:
Laura Bannach Jardim, Cristina Brinckmann Oliveira Netto, Sílvia Brustolin, Cláudia Rafaela Cecchin, Maira M. Burin, Ane Claudia Fernandes Nunes, Janice Carneiro Coelho, Roberto Giugliani, Ursula da Silveira Matte, Elvino José Guardão Barros, Marylin Tsao, Scheila Thofehrn
Publikováno v:
Renal failure. 31(9)
Prior to the introduction of enzyme replacement therapy (ERT), management of Fabry disease (FD) consisted of symptomatic and palliative measures. ERT has been available for several years using recombinant human agalsidase alfa, an analogue of alpha-g
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9c8a4ad261b704a088c89782ae0f02a7
https://pubmed.ncbi.nlm.nih.gov/19925283
https://pubmed.ncbi.nlm.nih.gov/19925283
Autor:
Jonas Alex Morales Saute, Cláudia Rafaela Cecchin, Carlos Roberto de Mello Rieder, Laura Bannach Jardim, Christian Kieling, Thais Lampert Monte, Andrew Chaves Feitosa da Silva
Publikováno v:
European journal of neurology. 15(4)
Spinocerebellar ataxias (SCAs) are characterized by a heterogeneous set of clinical manifestations. Our aims were to assess the neurological features of SCA3, and to describe and test the feasibility, reliability, and validity of a comprehensive Neur
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eb73495662e09a02620684aabb04d08f
https://pubmed.ncbi.nlm.nih.gov/18312406
https://pubmed.ncbi.nlm.nih.gov/18312406
Autor:
Leonardo Modesti Vedolin, C. Pitta-Pinheiro, Roberto Giugliani, Ursula da Silveira Matte, Flávio Franciosi Aesse, Laura Bannach Jardim, José Augusto Marconato, Cláudia Rafaela Cecchin, Ida Vanessa Doederlein Schwartz, Maira Graeff Burin, Luciane Kalakun
Publikováno v:
Journal of inherited metabolic disease. 27(2)
We report the clinical and radiological central nervous system (CNS) findings of 8 Fabry disease patients, before (8/8) and after (7/8) 12 months of enzyme replacement therapy (ERT) with agalsidase-alpha. Eight biochemically proven Fabry disease pati
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d9f66a56da775b6368a34dc4423eaab9
https://pubmed.ncbi.nlm.nih.gov/15159654
https://pubmed.ncbi.nlm.nih.gov/15159654
Publikováno v:
American journal of medical genetics. Part A. (1)
Satoyoshi syndrome (OMIM 600705) is a rare disorder of unknown cause characterized by progressive painful intermittent muscle spasms, amenorrhea, alopecia, malabsorption, and skeletal abnormalities mimicking a skeletal dysplasia. In this report, we d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::41f1ad9e45f5ebbdc6c696a7f5e6a07a
https://pubmed.ncbi.nlm.nih.gov/12605441
https://pubmed.ncbi.nlm.nih.gov/12605441