Zobrazeno 1 - 10
of 22
pro vyhledávání: '"Richard Rowell"'
Autor:
Ravi Savarirayan, Louise Tofts, Melita Irving, William Wilcox, Carlos Bacino, Julie Hoover-Fong, Rosendo Ullot Font, Paul Harmatz, Frank Rutsch, Ricki Carroll, Lynda Polgreen, Ignacio Ginebreda, Klaus Mohnike, Joel Charrow, Carlos Prada, Daniel Hoernschemeyer, Keiichi Ozono, Takuo Kubota, Yasemin Alanay, Paul Arundel, Yumiko Kotani, Natsuo Yasui, Klane White, Shelley Brandstetter, Howard Saal, Antonio Leiva-Gea, Felipe Luna-González, Hiroshi Mochizuki, Asako Tajima, Donald Basel, Elena Fisheleva, Richard Rowell, Alice Huntsman Labed, Jonathan Day
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101038- (2024)
Externí odkaz:
https://doaj.org/article/974a5c00c4b44b7f8f7d001a9668a033
Autor:
Juan Llerena, Jr, Pablo Rosselli, Amanda Aragão, Cristina Valenzuela, Debora Bertola, Yaneth Mendez, Mariana del Pino, Nicolette Calvacanti, Paula Thomazinho, Jeanne M. Pimenta, Shelda Cohen, Tom Butt, José C. Thomaz, Jr, Renée Shediac, Richard Rowell, Tatiana S.P.C. Magalhães, Chong Kim, Virginia Fano
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 100843- (2024)
Purpose: The multisystem clinical manifestations and complications of achondroplasia, the most common form of disproportionate short stature, can cause functional impairment and psychosocial burden. The Lifetime Impact Study for Achondroplasia (LISA)
Externí odkaz:
https://doaj.org/article/eeb761d8dbb64f3f8ada3e518aeb0303
Autor:
Mohamad Maghnie, Oliver Semler, Encarna Guillen-Navarro, Angelo Selicorni, Karen E. Heath, Gabriele Haeusler, Lars Hagenäs, Andrea Merker, Antonio Leiva-Gea, Vanesa López González, Adalbert Raimann, Mirko Rehberg, Fernando Santos-Simarro, Diana-Alexandra Ertl, Pernille Axél Gregersen, Roberta Onesimo, Erik Landfeldt, James Jarrett, Jennifer Quinn, Richard Rowell, Jeanne Pimenta, Shelda Cohen, Thomas Butt, Renée Shediac, Swati Mukherjee, Klaus Mohnike
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-19 (2023)
Abstract Background Achondroplasia, caused by a pathogenic variant in the fibroblast growth factor receptor 3 gene, is the most common skeletal dysplasia. The Lifetime Impact of Achondroplasia Study in Europe (LIAISE; NCT03449368) aimed to quantify t
Externí odkaz:
https://doaj.org/article/396b4128425f4efaa0a0c79776e03d51
Autor:
Juan Llerena, Jr, Virginia Fano, Pablo Rosselli, Mariana del Pino, Cristina Valenzuela, Janeth Méndez, Nicolette Cavalcanti, Paula Thomazinho, Amanda Aragão, José Thomaz, Tom Butt, Richard Rowell, Jeanne Pimenta, Shelda Cohen, Renée Shediac, Tatiana Magalhães, Debora Bertola, Chong Kim
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100261- (2023)
Externí odkaz:
https://doaj.org/article/b35af266ef1c40f58dfe076e08253473
Autor:
Mohamad Maghnie, Oliver Semler, Encarna Guillen-Navarro, Angelo Selicorni, Karen E. Heath, Gabriele Haeusler, Lars Hagenäs, Andrea Merker, Antonio Leiva-Gea, Vanesa López González, Adalbert Raimann, Mirko Rehberg, Fernando Santos-Simarro, Diana-Alexandra Ertl, Pernille Axél Gregersen, Roberta Onesimo, Erik Landfeldt, James Jarrett, Jennifer Quinn, Richard Rowell, Jeanne Pimenta, Shelda Cohen, Thomas Butt, Renée Shediac, Swati Mukherjee, Klaus Mohnike
Publikováno v:
Maghnie, M, Semler, O, Guillen-Navarro, E, Selicorni, A, Heath, K E, Haeusler, G, Hagenäs, L, Merker, A, Leiva-Gea, A, González, V L, Raimann, A, Rehberg, M, Santos-Simarro, F, Ertl, D A, Gregersen, P A, Onesimo, R, Landfeldt, E, Jarrett, J, Quinn, J, Rowell, R, Pimenta, J, Cohen, S, Butt, T, Shediac, R, Mukherjee, S & Mohnike, K 2023, ' Lifetime impact of achondroplasia study in Europe (LIAISE) : findings from a multinational observational study ', Orphanet Journal of Rare Diseases, vol. 18, no. 1, 56 . https://doi.org/10.1186/s13023-023-02652-2
Background Achondroplasia, caused by a pathogenic variant in the fibroblast growth factor receptor 3 gene, is the most common skeletal dysplasia. The Lifetime Impact of Achondroplasia Study in Europe (LIAISE; NCT03449368) aimed to quantify the burden
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::11dfec7ac94b250d5e128980ec2c0d09
https://pure.au.dk/portal/da/publications/lifetime-impact-of-achondroplasia-study-in-europe-liaise(b0e9f2ff-59db-4c5c-a1e1-50064f5d0566).html
https://pure.au.dk/portal/da/publications/lifetime-impact-of-achondroplasia-study-in-europe-liaise(b0e9f2ff-59db-4c5c-a1e1-50064f5d0566).html
Autor:
Suzanne Hollander, Sarah Rose, Kristin Lindstrom, Richard Rowell, Amarilis Sanchez-Valle, Markey McNutt
Publikováno v:
Molecular Genetics and Metabolism. 138:107424
Autor:
Richard Rowell, Elaina Jurecki, K. Ahring, Ashok Jha, Frank Rutsch, Roberto T. Zori, Gregory M. Pastores, Barbara K. Burton, Cary O. Harding
Publikováno v:
Molecular Genetics and Metabolism. 128:92-101
Phenylketonuria (PKU) is caused by phenylalanine hydroxylase (PAH) deficiency, resulting in high blood and brain Phenylalanine (Phe) concentrations that can lead to impaired brain development and function. Standard treatment involves a Phe-restricted
Autor:
Stephanie Sacharow, Hope Northrup, Kaleigh Bulloch Whitehall, Richard Rowell, Kristin Lindstrom, Barbara Burton, Janet Thomas
Publikováno v:
Molecular Genetics and Metabolism. 136:S23
Autor:
Richard Rowell, Laura Konczal, Susan E. Waisbren, Nicola Longo, Shawn E. McCandless, Joshua Lilienstein, Annette Feigenbaum, Kaleigh B. Whitehall, Barbara K. Burton, Amarilis Sanchez-Valle
Publikováno v:
Molecular genetics and metabolism
Sapropterin dihydrochloride has been approved for the treatment of hyperphenylalaninemia in infants and young children with phenylketonuria (PKU). Sapropterin can reduce phenylalanine (Phe) levels in tetrahydrobiopterin (BH4)-responsive patients, pot
Autor:
Jitendra Ganju, Marzena Jurek, Bruce F. Scharschmidt, Masoud Mokhtarani, John M. Vierling, Richard Rowell, Dion F. Coakley
Publikováno v:
Pharmaceutical Medicine. 30:95-101
Current approaches to detection of drug-induced liver injury (DILI) are generally based on changes from normal in biochemical liver tests. However, limited information is available regarding the proportion of patients with normal versus abnormal bioc