Zobrazeno 1 - 10
of 1 338
pro vyhledávání: '"R. Giugliani"'
Autor:
J. Villarrubia, M. Wasserstein, A. Barbato, R. C. Gallagher, R. Giugliani, N. B. Guelbert, J. B. Hennermann, C. Hollak, T. Ikezoe, R. Lachmann, O. Lidove, P. Mabe, E. Mengel, M. Scarpa, E. Senates, M. Tchan, B. L. Thurberg, A. Yarramaneni, A. M. Rawlings, Y. Kim, M. Kumar
Publikováno v:
HemaSphere, Vol 6, Pp 2183-2184 (2022)
Externí odkaz:
https://doaj.org/article/8b6bf652816a4800bab60bfbd934da9b
Autor:
R. Giugliani, P. Harmatz, S.A. Jones, N.J. Mendelsohn, A. Vellodi, Y. Qiu, C.J. Hendriksz, S. Vijayaraghavan, D.A.H. Whiteman, A. Pano
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 12, Iss C, Pp 2-7 (2017)
Objectives: This 109-week, nonrandomized, observational study of mucopolysaccharidosis II (MPS II) patients already enrolled in the Hunter Outcome Survey (HOS) (NCT00882921), assessed the long-term immunogenicity of idursulfase, and examined the effe
Externí odkaz:
https://doaj.org/article/92aa284d056b4ed48ebe7a886496a336
Autor:
D. Hughes, R. Giugliani, N. Guffon, S. A. Jones, K. E. Mengel, R. Parini, R. Matousek, S. M. Hawley, A. Quartel
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 12, Iss 1, Pp 1-8 (2017)
Abstract Background This post hoc subanalysis examined outcomes in adult patients with Morquio A (mucopolysaccharidosis IVA) who received enzyme replacement therapy (ERT) with elosulfase alfa over a 120-weeks period. Patients ≥18 years of age evalu
Externí odkaz:
https://doaj.org/article/4721627440df49499df6211cfe57b3d1
Autor:
J. Giacomazzi, E. Aguiar, E.I. Palmero, A.V. Schmidt, G. Skonieski, D.D. Filho, H. Bock, M.L. Saraiva-Pereira, I.P. Ewald, L. Schuler-Faccini, S.A. Camey, M. Caleffi, R. Giugliani, P. Ashton-Prolla
Publikováno v:
Brazilian Journal of Medical and Biological Research, Vol 45, Iss 10, Pp 891-897 (2012)
Polymorphisms of hormone receptor genes have been linked to modifications in reproductive factors and to an increased risk of breast cancer (BC). In the present study, we have determined the allelic and genotypic frequencies of the ERα-397 PvuII C/T
Externí odkaz:
https://doaj.org/article/cd70abeaba9d48e5b668eeec853ef17a
Severity score system for progressive myelopathy: development and validation of a new clinical scale
Autor:
R.M. Castilhos, D. Blank, C.B.O. Netto, C.F.M. Souza, L.N.T. Fernandes, I.V.D. Schwartz, R. Giugliani, L.B. Jardim
Publikováno v:
Brazilian Journal of Medical and Biological Research, Vol 45, Iss 7, Pp 565-572 (2012)
Progressive myelopathies can be secondary to inborn errors of metabolism (IEM) such as mucopolysaccharidosis, mucolipidosis, and adrenomyeloneuropathy. The available scale, Japanese Orthopaedic Association (JOA) score, was validated only for degenera
Externí odkaz:
https://doaj.org/article/89519818345648deb73701666b127f58
Autor:
A.C. Burlamaque-Neto, G.R. Santos, L.M. Lisbôa, J.R. Goldim, C.L.B. Machado, U. Matte, R. Giugliani
Publikováno v:
Brazilian Journal of Medical and Biological Research, Vol 45, Iss 2, Pp 93-96 (2012)
In Brazil, scientific research is carried out mainly at universities, where professors coordinate research projects with the active participation of undergraduate and graduate students. However, there is no formal program for the teaching/learning of
Externí odkaz:
https://doaj.org/article/b72e00cb96424cb9b218fb3e948eaee2
Autor:
J. Giacomazzi, E. Aguiar, E.I. Palmero, A.V. Schmidt, G. Skonieski, D. Duarte Filho, H. Bock, M.L. Saraiva-Pereira, L. Schuler-Faccini, S.A. Camey, M. Caleffi, R. Giugliani, P. Ashton-Prolla
Publikováno v:
Brazilian Journal of Medical and Biological Research, Vol 44, Iss 4, Pp 291-296 (2011)
Several studies have identified the single nucleotide polymorphism STK15 F31I as a low-penetrance risk allele for breast cancer, but its prevalence and risk association in the Brazilian population have not been determined. The goal of this study was
Externí odkaz:
https://doaj.org/article/10c2f3da1b324f68b7566fcdfa8c12cc
Autor:
F. T. S. Souza, L. S. Sostruznik, R. C. Scolari, K. J. M. Castro, C. V. Andrade, R. Giugliani, J. C. Coelho
Publikováno v:
Revista Argentina de Microbiología, Vol 42, Iss 1, Pp 18-22 (2010)
This study was designed to evaluate the effect of mycoplasma contamination on acid hydrolase activity and the action of the mycoplasma removal agent (MRA), in cultures of human fibroblasts from individuals with lysosomal diseases. For this purpose, w
Externí odkaz:
https://doaj.org/article/2c98bece311641629f3f043b19278aea
Publikováno v:
Brazilian Journal of Medical and Biological Research, Vol 43, Iss 1, Pp 1-7 (2010)
Homocysteine is a sulfur-containing amino acid derived from the metabolism of methionine, an essential amino acid, and is metabolized by one of two pathways: remethylation or transsulfuration. Abnormalities of these pathways lead to hyperhomocysteine
Externí odkaz:
https://doaj.org/article/a59eec6629344928876f8a926da36ceb
Publikováno v:
Brazilian Journal of Medical and Biological Research, Vol 41, Iss 11, Pp 1018-1023 (2008)
Epidemiological investigations suggest that T102C polymorphism of gene 5-HT2A may be associated with mean life span because diseases and behaviors related to this polymorphism, such as schizophrenia, suicide, aggression, and addiction, may potentiall
Externí odkaz:
https://doaj.org/article/4a5f70d5d6084a2c97ecd6612213e7a7