Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Stephen Groft"'
Autor:
Rima Nabbout, Galliano Zanello, Dixie Baker, Lora Black, Isabella Brambilla, Orion J. Buske, Laurie S. Conklin, Elin Haf Davies, Daria Julkowska, Yeonju Kim, Thomas Klopstock, Harumasa Nakamura, Kim G. Nielsen, Anne R. Pariser, Jose Carlos Pastor, Maurizio Scarpa, Maureen Smith, Domenica Taruscio, Stephen Groft
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-10 (2023)
Abstract Background Many patients with rare diseases are still lacking a timely diagnosis and approved therapies for their condition despite the tremendous efforts of the research community, biopharmaceutical, medical device industries, and patient s
Externí odkaz:
https://doaj.org/article/c9ca331354bc45bb934c597b9e06fa26
Autor:
Savino Sciascia, Dario Roccatello, Marco Salvatore, Claudio Carta, Laura L. Cellai, Gianluca Ferrari, Aimè Lumaka, Stephen Groft, Yasemin Alanay, Maleeha Azam, Gareth Baynam, Helene Cederroth, Eva Maria Cutiongco-de la Paz, Vajira Harshadeva Weerabaddana Dissanayake, Roberto Giugliani, Claudia Gonzaga-Jauregui, Dineshani Hettiarachchi, Oleg Kvlividze, Guida Landoure, Prince Makay, Béla Melegh, Ugur Ozbek, Ratna Dua Puri, Vanessa I. Romero, Vinod Scaria, Saumya S. Jamuar, Vorasuk Shotelersuk, William A. Gahl, Samuel A. Wiafe, Olaf Bodamer, Manuel Posada, Domenica Taruscio
Publikováno v:
Frontiers in Public Health, Vol 11 (2023)
BackgroundPatients, families, the healthcare system, and society as a whole are all significantly impacted by rare diseases (RDs). According to various classifications, there are currently up to 9,000 different rare diseases that have been recognized
Externí odkaz:
https://doaj.org/article/da71af76c6954864ad49d713a5a8c259
Autor:
Domenica Taruscio, Marco Salvatore, Aimè Lumaka, Claudio Carta, Laura L. Cellai, Gianluca Ferrari, Savino Sciascia, Stephen Groft, Yasemin Alanay, Maleeha Azam, Gareth Baynam, Helene Cederroth, Eva Maria Cutiongco-de la Paz, Vajira Harshadeva Weerabaddana Dissanayake, Roberto Giugliani, Claudia Gonzaga-Jauregui, Dineshani Hettiarachchi, Oleg Kvlividze, Guida Landoure, Prince Makay, Béla Melegh, Ugur Ozbek, Ratna Dua Puri, Vanessa Romero, Vinod Scaria, Saumya S. Jamuar, Vorasuk Shotelersuk, Dario Roccatello, William A. Gahl, Samuel A. Wiafe, Olaf Bodamer, Manuel Posada
Publikováno v:
Frontiers in Public Health, Vol 11 (2023)
IntroductionRare diseases (RD) are a health priority worldwide, overall affecting hundreds of millions of people globally. Early and accurate diagnosis is essential to support clinical care but remains challenging in many countries, especially the lo
Externí odkaz:
https://doaj.org/article/2227df40187d4d7eabf002601c80d926
Autor:
William A. Gahl, Durhane Wong-Rieger, Virginie Hivert, Rachel Yang, Galliano Zanello, Stephen Groft
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-11 (2021)
Abstract Background Treatments are often unavailable for rare disease patients, especially in low-and-middle-income countries. Reasons for this include lack of financial support for therapies and onerous regulatory requirements for approval of drugs.
Externí odkaz:
https://doaj.org/article/edd9fc3abd424996abdd1da439d5eefa
Autor:
Gareth Baynam, Stephanie Broley, Alicia Bauskis, Nicholas Pachter, Fiona McKenzie, Sharron Townshend, Jennie Slee, Cathy Kiraly-Borri, Anand Vasudevan, Anne Hawkins, Lyn Schofield, Petra Helmholz, Richard Palmer, Stefanie Kung, Caroline E. Walker, Caron Molster, Barry Lewis, Kym Mina, John Beilby, Gargi Pathak, Cathryn Poulton, Tudor Groza, Andreas Zankl, Tony Roscioli, Marcel E. Dinger, John S. Mattick, William Gahl, Stephen Groft, Cynthia Tifft, Domenica Taruscio, Paul Lasko, Kenjiro Kosaki, Helene Wilhelm, Bela Melegh, Jonathan Carapetis, Sayanta Jana, Gervase Chaney, Allison Johns, Peter Wynn Owen, Frank Daly, Tarun Weeramanthri, Hugh Dawkins, Jack Goldblatt
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 12, Iss 1, Pp 1-8 (2017)
Abstract Background New approaches are required to address the needs of complex undiagnosed diseases patients. These approaches include clinical genomic diagnostic pipelines, utilizing intra- and multi-disciplinary platforms, as well as specialty-spe
Externí odkaz:
https://doaj.org/article/fd1d44fbca064efaae5bfc0d962bda6b
Autor:
Michael E. Mendelsohn, Takateru Izumi, Russell Ross, Margaret Wu, Jeffrey E. DeClue, Mark Majesky, Martha Vaughan, Victor J. Ferrans, Pauline M. Barnes, Joseph P. Lynch, Douglas B. Flieder, Rex C. Yung, Anne E. Tattersfield, Gerald J. Beck, Nilo A. Avila, Kateri Gabriele, Mary Ehrmantraut, Elbert P. Trulock, Barry L. Fanburg, Joel Moss, Anil Menon, Suzanne Oparil, Jean-François Cordier, Marilyn K. Glassberg, William D. Travis, Kurt R. Stenmark, Marco W T Schreurs, Peter B. O'Donovan, Eugene J. Sullivan, Clara C. Chen, Shan Chu, Mark D. Schluchter, Carol E. Vreim, Stephen Groft
Publikováno v:
American Journal of Respiratory and Critical Care Medicine. 159:679-683
Autor:
Stephen Groft, Marysia Shudy, Carol Nicholson, Susan Ly, Tammara L. Jenkins, Mary Lihinie de Almeida, Christopher Landon
Publikováno v:
Pediatrics. 118
OBJECTIVE. We sought to inform decision-making for children and families by describing what is known and remains unknown about the impact of childhood critical illness and injury on families. This report also was designed as a tool for research plann
Autor:
Richard C. Dart, Stephen W. Borron, E. Martin Caravati, Daniel J. Cobaugh, Steven C. Curry, Jay L. Falk, Lewis Goldfrank, Susan E. Gorman, Stephen Groft, Kennon Heard, Ken Miller, Kent R. Olson, Gerald O'Malley, Donna Seger, Steven A. Seifert, Marco L.A. Sivilotti, Tammi Schaeffer, Anthony J. Tomassoni, Robert Wise, Gregory M. Bogdan, Mohammed Alhelail, Jennie Buchanan, Jason Hoppe, Eric Lavonas, Sara Mlynarchek, Dong-Haur Phua, Sean Rhyee, Shawn Varney, Amy Zosel
Publikováno v:
Annals of Emergency Medicine. 54:386-394.e1
We developed recommendations for antidote stocking at hospitals that provide emergency care.An expert panel representing diverse perspectives (clinical pharmacology, clinical toxicology, critical care medicine, clinical pharmacy, emergency medicine,