Results 11 to 20 of about 3,489,004 (303)

Diagnosis of rare bleeding disorders [PDF]

Haemophilia, 2020
AbstractRare bleeding disorders result in significant morbidity but are globally underdiagnosed. Advances in genomic testing and specialist laboratory assays have greatly increased the diagnostic armamentarium. This has resulted in the discovery of new genetic causes for rare diseases and a better understanding of the underlying molecular pathology.
Meijer, K., van Heerde, W.L., van Heerde, W.L., Gomez, K.   +3 more
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Treatable inherited rare movement disorders [PDF]

Movement Disorders, 2017
ABSTRACTThere are many rare movement disorders, and new ones are described every year. Because they are not well recognized, they often go undiagnosed for long periods of time. However, early diagnosis is becoming increasingly important. Rapid advances in our understanding of the biological mechanisms responsible for many rare disorders have enabled ...
Jinnah, H. A., Albanese, Alberto, Jankovic, Joseph, Kaji, Ryuji, Kotschet, Katya, Marras, Connie, Miyasaki, Janis M, Morgante, Francesca, Munchau, Alexander, Pal, Pramod Kumar, Rodriguez Oroz, Maria C, Rodríguez-Violante, Mayela, Bhatia, Kailash P, Schöls, Ludger, Stamelou, Maria, Tijssen, Marina, Uribe Roca, Claudia, de la Cerda, Andres, Gatto, Emilia M, Disorders, International Parkinson's Disease Movement Disorders Society Task Force on Rare Movement, Cardoso, Francisco, Da Prat, Gustavo, de Koning, Tom J, Espay, Alberto J, Fung, Victor, Garcia-Ruiz, Pedro J, Gershanik, Oscar   +26 more
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Rare disorders have many faces: in silico characterization of rare disorder spectrum [PDF]

Orphanet Journal of Rare Diseases, 2022
AbstractBackgroundThe diagnostic journey for many rare disease patients remains challenging despite use of latest genetic technological advancements. We hypothesize that some patients remain undiagnosed due to more complex diagnostic scenarios that are currently not considered in genome analysis pipelines.
Simona D. Frederiksen, Vladimir Avramović, Tatiana Maroilley, Anna Lehman, Laura Arbour, Maja Tarailo-Graovac   +5 more
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Rare congenital bleeding disorders

Annals of Translational Medicine, 2018
The rare congenital bleeding disorders are a heterogeneous group of diseases which include deficiencies of fibrinogen, prothrombin and factors V, V + VIII, VII, X, XI and XIII. They are usually transmitted as autosomal recessive disorders, and the prevalence of the severe forms ranges from one case in 500,000 for factor VII up to one in 2,000,000 for ...
Franchini, Massimo, Marano, Giuseppe, Pupella, Simonetta, Vaglio, Stefania, Masiello, Francesca, Veropalumbo, Eva, Piccinini, Vanessa, Pati, Ilaria, Catalano, Liviana, Liumbruno, Giancarlo Maria   +9 more
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Rare bleeding disorders

Haemophilia, 2008
Summary.  During the haemostatic response, the formation of a primary platelet plug limits bleeding and provides a surface for clotting factors to assemble and become activated. The initial platelet plug is stabilized by fibrin monomers, covalently cross‐linked by FXIII, forming a platelets‐fibrin thrombus.
Peyvandi, F., Cattaneo, M., Inbal, A., De Moerloose, Philippe, Spreafico, M.   +4 more
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Gene-based therapeutics for rare genetic neurodevelopmental psychiatric disorders [PDF]

, 2022
We are in an emerging era of gene-based therapeutics with significant promise for rare genetic disorders. The potential is particularly significant for genetic central nervous system disorders that have begun to achieve Food and Drug Administration ...
Tauscher-Wisniewski, Sitra, Bönnemann, Carsten, Wang, Dan, Zoghbi, Huda Y, Buxbaum, Joseph D, Kleiman, Robin J, Davidson, Beverly L, Bradbury, Allison M, Shaywitz, Adam J, Sahin, Mustafa, Tifft, Cynthia J, Gray, Steven J, Gray-Edwards, Heather L, Gao, Guangping, Berry-Kravis, Elizabeth, Flotte, Terence R, Corcoran, Gavin R   +16 more
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Rare Coagulation Disorders [PDF]

Thrombosis and Haemostasis, 1999
SummaryThe type of hemorrhagic manifestations that occur in patients with recessively transmitted coagulation disorders and their optimal treatment are not well established as for hemophilia A and B and von Willebrand disease, due to the rarity of these disorders. In a Muslim country like Iran where consanguineous marriages are frequent these disorders
F. Peyvandi, P.M. Mannucci
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Drugs for rare disorders [PDF]

British Journal of Clinical Pharmacology, 2017
Estimates of the frequencies of rare disorders vary from country to country; the global average defined prevalence is 40 per 100 000 (0.04%). Some occur in only one or a few patients.However, collectively rare disorders are fairly common, affecting 6–8% of the US population, or about 30 million people, and a similar number in the European Union.
Cremers, S, Aronson, J
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Rare bleeding disorders [PDF]

Haemophilia, 2006
Summary.  Deficiencies of coagulation factors other than factor VIII and factor IX (afibrinogenemia, FII, FV, FV+FVIII, FVII, FX, FXI, FXIII) that cause bleeding disorders (RBDs) are inherited as autosomal recessive traits and are rare, with prevalences in the general population varying between 1 in 500.000 and 1 in 2 million for the homozygous forms ...
Peyvandi, F., Kaufman, R. J., Seligsohn, U., Salomon, O., Bolton-Maggs, P. H. B., Spreafico, M., Menegatti, M., Palla, R., Siboni, S., Mannucci, P. M.   +9 more
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Rare bleeding disorders [PDF]

Haemophilia, 2012
Summary.  Rare bleeding disorders (RBDs) include the inherited deficiencies of fibrinogen, factor (F)II, FV, FV+FVIII, FVII, FX, FXI and FXIII. There have been remarkable advances in understanding the molecular profiles that lead to each type of coagulation factor deficiency.
F. Peyvandi, P. H. Bolton Maggs, A. Batorova, P. De Moerloose   +3 more
openaire   +2 more sources