Results 11 to 20 of about 32,062 (289)

Haemophilia

Nature Reviews Disease Primers, 2021
Haemophilia A and B are rare congenital, recessive X-linked disorders caused by lack or deficiency of clotting factor VIII (FVIII) or IX (FIX), respectively.
Hart, D.P., Berntorp, E., Blanchette, V., Mancuso, M.E., Shapiro, A.D., Fischer, K., Stephensen, D.   +6 more
core   +3 more sources

Haemophilia

The Lancet
Join a boy named Phil and his family on a trip to the hospital as they learn about a mysterious health condition called Haemophilia.This storybook is recommended for children aged 8-10 years.This is a simplified narrative of the disease Haemophilia. This
Jasmine Hotton (18556592), Amelia Marsham (18556596), Jessica Leong (18556594)   +2 more
core   +3 more sources

Contrasting Approaches in the Implementation of GRADE Methodology in Guidelines for Haemophilia and Von Willebrand Disease

Haemophilia, EarlyView.
Introduction: The 2024 ISTH clinical practice guideline (CPG) for treatment of congenital haemophilia, the NBDF-McMaster Guideline on Care Models for Haemophilia Management, and ASH ISTH NBDF WFH guidelines on the diagnosis and management of VWD all ...
Astermark, Jan, Talks, Kate, Talks, Kate,, Dargaud, Yesim,, Meunier, Sandrine,, Windyga, Jerzy,, Santoro, Rita C., Ramos, Gloria,, d'Oiron, Roseline, Escuriola-Ettingshausen, Carmen, Mancuso, Maria Elisa, Recht, Michael, Blatny, Jan, Ramos, Gloria, Male, Christoph,, Oldenburg, Johannes,, Dunn, Amy L., Kenet, Gili, Skinner, Mark W., Dargaud, Yesim, Romero-Lux, Olivia, Recht, Michael,, Pierce, Glenn F, Connell, Nathan T., Albisetti, Manuela,, Khoo, Liane,, Blatny, Jan,, Escobar, Miguel A, Harroche, Annie, Ardila, Jesús, Rotellini, Dawn, Lillicrap, David, Tran, Huyen,, MHEMO, HTCCNC, NBDF, PEDNET, UKHCDO, WFH, Albisetti, Manuela, Susen, Sophie, Crato, Miguel, Miesbach, Wolfgang,, Gouider, Emna, Singleton, Tammuella C., Hermans, Cedric,, Ozelo, Margareth, Yang, Renchi, Singleton, Tammuella C, Chowdary, Pratima, Valentino, Leonard A, Miesbach, Wolfgang, Nolan, Beatrice, Kaczmarek, Radoslaw, Astermark, Jan,, Harroche, Annie,, Dunn, Amy L, also on behalf of AICE, AHAD‐AP, AHCDC, ATHN, CLAHT, EHC, French CRH, Skinner, Mark W, Santoro, Rita C, Lund University., d'Oiron, Roseline,, Kaczmarek, Radoslaw,, Connell, Nathan T.,, Tran, Huyen, Langer, Florian, Escobar, Miguel A., Skinner, Mark W.,, Escobar, Miguel A.,, Valentino, Leonard A.,, Srivastava, Alok, Valentino, Leonard A., Meunier, Sandrine, Pierce, Glenn F., Ozelo, Margareth,, Pierce, Glenn F.,, Ardila, Jesús,, Khoo, Liane, Klamroth, Robert, Hermans, Cedric, Carcao, Manuel, Jimenez-Yuste, Victor,, Klamroth, Robert,, Mahlangu, Johnny, O'Mahony, Brian, Oldenburg, Johannes, Matsushita, Tadashi,, Male, Christoph, Langer, Florian,, Carcao, Manuel,, also on behalf of AICEAHAD-APAHCDCATHNCLAHTEHCFrench CRH & MHEMOHTCCNCNBDFPEDNETUKHCDOWFH, Nolan, Beatrice,, Matsushita, Tadashi, Connell, Nathan T, Kenet, Gili,, Mancuso, Maria Elisa,, Dunn, Amy L.,, Gouider, Emna,, Susen, Sophie,, Jimenez-Yuste, Victor, Windyga, Jerzy   +95 more
core   +2 more sources

Adeno‐associated virus serotype 2 capsid variants for improved liver‐directed gene therapy

Hepatology, EarlyView., 2022
Abstract Background and Aims Current liver‐directed gene therapies look for adeno‐associated virus (AAV) vectors with improved efficacy. With this background, capsid engineering is explored. Whereas shuffled capsid library screenings have resulted in potent liver targeting variants with one first vector in human clinical trials, modifying natural ...
Nadja Meumann, Marti Cabanes‐Creus, Moritz Ertelt, Renina Gale Navarro, Julie Lucifora, Qinggong Yuan, Karin Nien‐Huber, Ahmed Abdelrahman, Xuan‐Khang Vu, Liang Zhang, Ann‐Christin Franke, Christian Schmithals, Albrecht Piiper, Annabelle Vogt, Maria Gonzalez‐Carmona, Jochen T. Frueh, Evelyn Ullrich, Philip Meuleman, Steven R. Talbot, Margarete Odenthal, Michael Ott, Erhard Seifried, Clara T. Schoeder, Joachim Schwäble, Leszek Lisowski, Hildegard Büning   +25 more
wiley   +1 more source

Evidence of a disability paradox in patient-reported outcomes in haemophilia. [PDF]

, 2021
People with inherited and long-term conditions such as haemophilia have been shown to adapt to their levels of disability, often reporting better quality of life (QoL) than expected from the general population (the disability paradox). To investigate the
O'Hara, Jamie, Li, N, Brendan Mulhern, George Morgan, Morgan, George, Nugent, Diane, Sawyer, Eileen K., Martin, AP, O’Hara, J, Skinner, Mark W., Tyler W. Buckner, Eileen K. Sawyer, Martin, Antony P., Mulhern, Brendan, Witkop, M, O’Mahony, B, Antony P. Martin, Mark W. Skinner, Brian O’Mahony, Nanxin Li, Morgan, G, Mulhern, B, O'Mahony, Brian, Nugent, D, Sawyer, EK, Witkop, Michelle, Diane Nugent, Buckner, TW, Li, Nanxin, Skinner, MW, Jamie O’Hara, Buckner, Tyler W., Michelle Witkop   +32 more
core   +1 more source

Haemophilia [PDF]

Postgraduate Medical Journal, 1997
Summary Although the nature of haemophilia has been understood for thousands of years, knowledge of its molecular genetics is recent. These X-linked bleeding disorders have diverse underlying DNA defects and, in 1992, DNA inversion within the X chromosome was found to explain half of the most serious cases of haemophilia A. The life-span
Cahill, Mary R., Colvin, B. T.
openaire   +3 more sources

ACQUIRED HAEMOPHILIA A

Journal of Ayub Medical College Abbottabad, 2023
Acquired haemophilia A (AHA) is a rare disease believed to be caused by spontaneous inhibition of clotting Factor VIII by autoantibodies. This is in contrast to the more common congenital haemophilias which are largely due to an absolute deficiency in coagulation factors. It has a prevalence of approximately one per million per year.
Ewe Jin Koh, Jenq Tzong Tan, Nur Nadia Amalina Manan, Khai Yng Hor, Zi Yu Teh, Ming Lee Chin   +5 more
openaire   +2 more sources

Patient preferences and priorities for haemophilia gene therapy in the US: A discrete choice experiment [PDF]

, 2021
Gene therapy has shown promise in clinical trials for patients with haemophilia, but patient preference studies have focused on factor replacement treatments.
O'Hara, Jamie, Li, N, Jamie O'Hara, Recht, M, Brendan Mulhern, Cawson, M, George Morgan, Recht, Michael, Morgan, George, Ali, Talaha M., Nugent, Diane, Sawyer, Eileen K., Matthew Cawson, Skinner, Mark W., Tyler W. Buckner, Eileen K. Sawyer, Mulhern, Brendan, Witkop, M, Brian O'Mahony, Curtis, Randall, Mark W. Skinner, Michael Recht, Nanxin Li, Talaha M. Ali, Morgan, G, Mulhern, B, O'Mahony, Brian, Nugent, D, Curtis, R, Sawyer, EK, Witkop, Michelle, Buckner, TW, Diane Nugent, Randall Curtis, Li, Nanxin, O'Hara, J, Skinner, MW, Cawson, Matthew, O'Mahony, B, Ali, TM, Buckner, Tyler W., Michelle Witkop   +41 more
core   +1 more source

Evolution of Haemophilia Care in Europe: 10 years of the principles of care

Orphanet Journal of Rare Diseases, 2020
Introduction The European principles of care in haemophilia marked their first decade in 2018. These guiding principles were the beginning of the European Haemophilia Consortium (EHC) review of countries’ adherence to these principles in 2009, 2012, 2015
D. Noone, B. O’Mahony, F. Peyvandi, M. Makris, A. Bok   +4 more
doaj   +1 more source

The history and evolution of the clinical effectiveness of haemophilia type a treatment: a systematic review. [PDF]

, 2012
First evidence of cases of haemophilia dates from ancient Egypt, but it was when Queen Victoria from England in the 19th century transmitted this illness to her descendants, when it became known as the "royal disease".
Castro, Hector E, Casas, Claudia P, Briceño, María Fernanda, Rueda, Juan David   +3 more
core   +1 more source