Zobrazeno 1 - 10
of 205
pro vyhledávání: '"Congenital Thrombotic Thrombocytopenic Purpura"'
Publikováno v:
Global & Regional Health Technology Assessment, Vol 11, Iss 1 (2024)
Background: Congenital thrombotic thrombocytopenic purpura (cTTP) is a rare genetic disorder characterized by an abnormal clotting process leading to serious health complications such as thrombocytopenia and hemolytic anemia. Despite its clinical sig
Externí odkaz:
https://doaj.org/article/23de6f53fd744c12bf692967c0881d69
Autor:
Abiola Oladapo, Diane Ito, Ana María Rodriguez, Stephanie Philpott, Robert Krupnick, Veleka Allen, Christopher Hibbard, Marie Scully, Bruce Ewenstein
Publikováno v:
Journal of Patient-Reported Outcomes, Vol 7, Iss 1, Pp 1-14 (2023)
Abstract Background Congenital thrombotic thrombocytopenic purpura (cTTP) is an ultra-rare, life-threatening hereditary disorder that causes patients to experience significant morbidity and decreased health-related quality of life (HRQoL). A cTTP dis
Externí odkaz:
https://doaj.org/article/d7316090fb6e4bc190e61bd970b9da40
Publikováno v:
Hematology, Vol 28, Iss 1 (2023)
ABSTRACTCongenital thrombotic thrombocytopenic purpura (TTP) is a rare autosomal recessive genetic disorder caused by mutations in the ADAMTS13 gene. Approximately 200 mutations of the ADAMTS-13 gene have been identified, although only a few have bee
Externí odkaz:
https://doaj.org/article/9f4e810545d44a4abc5443cba4a2b889
Autor:
Erika Tarasco, Anne Sophie vonKrogh, Radomira Hrdlickova, Thomas R. Braschler, Teresa Iwaniec, Paul N. Knöbl, Eriko Hamada, Oleg Pikovsky, Stefan Farese, Odit Gutwein, Petr Kessler, Nina H. Schultz, Charis vonAuer, Jerzy Windyga, Kenneth Friedman, Ingrid Hrachovinova, James N. George, Masanori Matsumoto, Reinhard Schneppenheim, Bernhard Lämmle, Johanna Anna Kremer Hovinga
Publikováno v:
Research and Practice in Thrombosis and Haemostasis, Vol 6, Iss 7, Pp n/a-n/a (2022)
Abstract Introduction Severe COVID‐19 is associated with an important increase of von Willebrand factor and mild lowering of ADAMTS13 activity that may, in the presence of a strong inflammatory reaction, increase the risk of acute thrombotic thromb
Externí odkaz:
https://doaj.org/article/b0ec99487a444cfaa49783a970f5fc28
Publikováno v:
BMC Medical Genetics, Vol 21, Iss 1, Pp 1-5 (2020)
Abstract Background Mutations in the ADAMTS13 gene family have been reported to cause congenital thrombotic thrombocytopenic purpura (cTTP), a rare disease characterized by thrombocytopenia and hemolytic anemia. Nearly 150 causative mutations in ADAM
Externí odkaz:
https://doaj.org/article/e7dc0d3d1c8b437b8d72c5164b1bc925
Novel Mutation of Upshaw-Schulman Syndrome Associated with Coarctation of Aorta in Palestinian Child
Publikováno v:
Ķazaķstannyṇ Klinikalyķ Medicinasy, Vol 1, Iss 55, Pp 27-31 (2020)
Upshaw-Schulman syndrome is a rare inherited form of thrombotic thrombocytopenic purpura disease caused by deficiency of ADAMTS13 and reversible by fresh frozen plasma infusions. Unlike the more common acquired thrombotic thrombocytopenic purpura, pa
Externí odkaz:
https://doaj.org/article/4ebbd7b136794bc39b3c505e68106edc
Publikováno v:
Platelets, Vol 31, Iss 8, Pp 1094-1096 (2020)
We present a case of hereditary thrombotic thrombocytopenic purpura (hTTP) caused by a previously undescribed mutation in a 36-year-old woman who presented with seizures in the context of a possible infection. Her hematologic manifestations were mild
Externí odkaz:
https://doaj.org/article/6bb879a77bee44d6a612cf05fbb02910
Autor:
Jiali Wang, Li Zhao
Publikováno v:
Frontiers in Pediatrics, Vol 8 (2020)
Congenital thrombotic thrombocytopenic purpura (TTP) is a rare hereditary disease with a high mortality rate; however, improved patient survival is possible with prompt diagnosis and treatment. The clinical features and mutation sites of a disintegri
Externí odkaz:
https://doaj.org/article/905ffa18bec74eb2acc22aa03b73a539
Autor:
Valter Romão de Souza, Ana Beatriz Cavalcante de Oliveira, Ana Maria Vanderlei, Amanda Queiroz da Mota Silveira Aroucha, Bruna Pontes Duarte, Aureli Nunes Machado, Lívia Netto Chaer, Cláudia Wanderley de Barros Correia, Maria da Conceição de Barros Correia, Manuela Freire Hazin Costa
Publikováno v:
Journal of Medical Case Reports, Vol 12, Iss 1, Pp 1-6 (2018)
Abstract Background Thrombotic thrombocytopenic purpura is a very rare hereditary blood deficiency disorder of ADAMTS13 (von Willebrand factor-cleaving protease) and a life-threatening thrombotic microangiopathy characterized by thrombocytopenia and
Externí odkaz:
https://doaj.org/article/b9f4d7364fec4bd99f52bedc64c078ac
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