Zobrazeno 1 - 10
of 88
pro vyhledávání: '"Kim Hanh Le Quan Sang"'
Autor:
Robert J. Pignolo, Geneviève Baujat, Matthew A. Brown, Carmen De Cunto, Maja Di Rocco, Edward C. Hsiao, Richard Keen, Mona Al Mukaddam, Kim Hanh Le Quan Sang, Andrew Strahs, Rose Marino, Frederick S. Kaplan
Publikováno v:
Bone Reports, Vol 13, Iss , Pp 100607- (2020)
Externí odkaz:
https://doaj.org/article/f36899907b7e499e9d2620de71c717ca
Autor:
Robert J. Pignolo, Mona Al Mukaddam, Geneviève Baujat, Matthew A. Brown, Carmen De Cunto, Edward C. Hsiao, Richard Keen, Kim-Hanh Le Quan Sang, Donna R. Grogan, Rose Marino, Andrew R. Strahs, Frederick S. Kaplan
Publikováno v:
BMC Medical Research Methodology, Vol 23, Iss 1, Pp 1-13 (2023)
Abstract Background The design of clinical trials in rare diseases is often complicated by a lack of real-world translational knowledge. Fibrodysplasia ossificans progressiva (FOP) is an ultra-rare genetic disorder characterized by skeletal malformat
Externí odkaz:
https://doaj.org/article/3d06cf9e3e804e1d98d678d462963546
Autor:
Daniela Braconi, Michela Geminiani, Eftychia Eirini Psarelli, Daniela Giustarini, Barbara Marzocchi, Ranieri Rossi, Giulia Bernardini, Ottavia Spiga, James A. Gallagher, Kim-Hanh Le Quan Sang, Jean-Baptiste Arnoux, Richard Imrich, Mohammed S. Al-Sbou, Matthew Gornall, Richard Jackson, Lakshminarayan R. Ranganath, Annalisa Santucci
Publikováno v:
Cells, Vol 11, Iss 22, p 3668 (2022)
Nitisinone (NTBC) was recently approved to treat alkaptonuria (AKU), but there is no information on its impact on oxidative stress and inflammation, which are observed in AKU. Therefore, serum samples collected during the clinical studies SONIA1 (40
Externí odkaz:
https://doaj.org/article/dfa79fb8afc24bcd809e1bad25c7ce7f
Autor:
Robert J Pignolo, Edward C Hsiao, Mona Al Mukaddam, Geneviève Baujat, Staffan K Berglund, Matthew A Brown, Angela M Cheung, Carmen De Cunto, Patricia Delai, Nobuhiko Haga, Peter Kannu, Richard Keen, Kim-Hanh Le Quan Sang, Edna E Mancilla, Rose Marino, Andrew Strahs, Frederick S Kaplan
Publikováno v:
Future Rare Diseases. 3
What is this summary about? This is a plain language summary of an article originally published in the Journal of Bone and Mineral Research. People with fibrodysplasia ossificans progressiva (FOP) become physically disabled over time as new bone form
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::db33eb8d7dcc99a2fe2f5ff206edaf19
https://doi.org/10.2217/frd-2022-0015
https://doi.org/10.2217/frd-2022-0015
Autor:
Robert J. Pignolo, Edward C. Hsiao, Mona Al Mukaddam, Geneviève Baujat, Staffan K. Berglund, Matthew A. Brown, Angela M. Cheung, Carmen De Cunto, Patricia Delai, Nobuhiko Haga, Peter Kannu, Richard Keen, Kim‐Hanh Le Quan Sang, Edna E. Mancilla, Rose Marino, Andrew Strahs, Frederick S. Kaplan
Fibrodysplasia ossificans progressiva (FOP) is an ultra-rare, severely disabling genetic disorder of progressive heterotopic ossification (HO). The single-arm, open-label, phase 3 MOVE trial (NCT03312634) assessed efficacy and safety of palovarotene,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::492896d9f94932c067c4d1dfb7363b11
http://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-204678
http://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-204678
Akademický článek
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Autor:
null Robert J. Pignolo, null Edward C. Hsiao, null Mona Al Mukaddam, null Geneviève Baujat, null Staffan K. Berglund, null Matthew A. Brown, null Angela M. Cheung, null Carmen De Cunto, null Patricia Delai, null Nobuhiko Haga, null Peter Kannu, null Richard Keen, null Kim‐Hanh Le Quan Sang, null Edna E. Mancilla, null Rose Marino, null Andrew Strahs, null Frederick S. Kaplan
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::48116c305a70e6443e123fdf0b160e3e
https://doi.org/10.1002/jbmr.4762/v2/response1
https://doi.org/10.1002/jbmr.4762/v2/response1
Autor:
Ravi Savarirayan, Melita Irving, Paul Harmatz, Borja Delgado, William R. Wilcox, John Philips, Natalie Owen, Carlos A. Bacino, Louise Tofts, Joel Charrow, Lynda E. Polgreen, Julie Hoover-Fong, Paul Arundel, Ignacio Ginebreda, Howard M. Saal, Donald Basel, Rosendo Ullot Font, Keiichi Ozono, Michael B. Bober, Valerie Cormier-Daire, Kim-Hanh Le Quan Sang, Genevieve Baujat, Yasemin Alanay, Frank Rutsch, Daniel Hoernschemeyer, Klaus Mohnike, Hiroshi Mochizuki, Asako Tajima, Yumiko Kotani, David D. Weaver, Klane K. White, Clare Army, Kevin Larrimore, Keith Gregg, George Jeha, Claire Milligan, Elena Fisheleva, Alice Huntsman-Labed, Jonathan Day
This study was undertaken to collect baseline growth parameters in children with achondroplasia who might enroll in interventional trials of vosoritide, and to establish a historical control.In this prospective, observational study, participants (≤
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f453eff204de636d775f291695fcb1b7
https://hdl.handle.net/10668/22253
https://hdl.handle.net/10668/22253
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
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Autor:
Robert J. Pignolo, Geneviève Baujat, Matthew A. Brown, Carmen De Cunto, Edward C. Hsiao, Richard Keen, Mona Al Mukaddam, Kim-Hanh Le Quan Sang, Amy Wilson, Rose Marino, Andrew Strahs, Frederick S. Kaplan
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics. 24(12)
We report the first prospective, international, natural history study of the ultra-rare genetic disorder fibrodysplasia ossificans progressiva (FOP). FOP is characterized by painful, recurrent flare-ups, and disabling, cumulative heterotopic ossifica
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f9700cf27d5318653b2ac1c4b4d6ec78
https://pubmed.ncbi.nlm.nih.gov/36152026
https://pubmed.ncbi.nlm.nih.gov/36152026