Zobrazeno 1 - 10
of 565
pro vyhledávání: '"A. Quartel"'
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
Akademický článek
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Autor:
Azulay, Jean-Philippe, Balaguer, Ernest, Bhatia, Perminder, Bodis-Wollner, Ivan, Brownstone, Paul, Boulloche, Nicolas, Calegan, Gerald J., II, Castelnovo, Giovanni, Chou, Kelvin L., Corvol, Jean-Christophe, Danisi, Fabio, Defebvre, Luc, Desojo, Lydia Vela, Durif, Franck, Ehret, Reinhard, Evans, Bradley K., Forchetti, Concetta, Friedman, Joseph H., Fogel, Wolfgang, Garniga, Matilde Calopa, Gil, Ramon A., Ginsberg, Paul L., Glasberg, Mark R., Griffith, Alida, Groves, Jeffrey W., Gudesblatt, Mark, Hermanowicz, Neal, Herrera, Maria A., Houeto, Jean-Luc, Hutchman, Robert M., Isaacson, Stuart H., Jagadeesan, Singar, Jog, Mandar, Keegan, Andrew, Klostermann, Fabian, Krystkowiak, Pierre, Kulisevsky Bojarsky, Jaime, Kumar, Rajeev, Lacey, Dennis, Lasker, Bruce, LaVaccare, John, Lavallee, Michelle M., Piudo, Maria Rosario Luquin, Mahler, Andreas, Domenech, Maria José Martí, Martinez Castrillo, Juan Carlos, Mate, Laszlo J., Mendis, Tilak, Metman, Leonard Verhagen, Muhlack, Siegfried Martin, Müller, Thomas, Park, Ariane, Patton, James, Peckham, Elizabeth, Grandas Pérez, Francisco, Rabin, Marcie, Rascol, Olivier, Reifschneider, Gerd, Remy, Philippe, Rivera, Pablo Mir, Schwarz, Johannes, Roullet-Solignac, Isabelle, Salazar, Gabriel, Sergay, Stephen M., Sherman, Scott, Shubin, Richard, Spikol, Lorraine, Steigerwald, Frank, Tönges, Lars, Truong, Daniel D., Ugarte, Antonio, Vivancos Matellano, Francisco, Witte, Arnold, Zesiewicz, Theresa, Zauber, Sarah Elizabeth, deVries, Tina, Jaros, Mark, Quartel, Adrian, Jacobs, David
Publikováno v:
In Parkinsonism and Related Disorders March 2022 96:65-73
Akademický článek
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Autor:
van Denderen, R. Pepijn, Schielen, Ralph M.J., Westerhof, Sam G., Quartel, Susanne, Hulscher, Suzanne J.M.H.
Publikováno v:
In Geomorphology 15 February 2019 327:93-110
We present first results of a simultaneous atmospheric turbulence measurement campaign at the Calar Alto (Spain) 1.23m and 3.5m telescopes. A SCIDAR instrument and the Calar Alto Adaptive Optics system ALFA were used at the 1.23m and 3.5m telescopes
Externí odkaz:
http://arxiv.org/abs/astro-ph/0101474
Autor:
Sumitra Sri Bhashyam, Kevin Marsh, Adrian Quartel, Haoling H. Weng, Ari Gershman, Nicola Longo, Janet Thomas, Roberto Zori
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 21, Iss , Pp - (2019)
Background: Phenylketonuria (PKU) leads to an accumulation of phenylalanine (Phe) in the blood and subsequent neurologic, cognitive, psychiatric, and behavioral dysfunction. Many patients report social isolation and decreased quality of life. Pegvali
Externí odkaz:
https://doaj.org/article/3364638ce1c44fad95895db209531b89
Autor:
Johnson, Erin M. *, Roberts, Mark, Mozaffar, Tahseen, Young, Peter, Quartel, Adrian, Berger, Kenneth I.
Publikováno v:
In Neuromuscular Disorders February 2016 26(2):136-145
Publikováno v:
In Clinical Therapeutics 1 July 2015 37(7):1555-1563
Publikováno v:
Revista Saúde.com; v. 18 n. 4 (2022)
O presente estudo teve como objetivo apresentar a mastite granulomatosa idiopática (MGI), uma doença da mama que possui achados de ampla variabilidade clínica. A MGI é uma doença inflamatória crônica da mama que acomete majoritariamente mulher