Zobrazeno 1 - 10 of 14 pro vyhledávání: '"Arlette Ruiz-Saez"'
1
Tratamiento moderno de la hemofilia y el desarrollo de terapias innovadoras
Autor: Arlette Ruiz-Saez
Publikováno v: Investigación Clínica. 62:73-95
La hemofilia es una enfermedad hemorrágica resultante de mutaciones en el gen del factor VIII (F8) de la coagulación en el caso de la hemofilia A o en el gen del factor IX (F9) en el caso de la hemofilia B, siendo ambas formas indistinguibles clín
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::8ff0f2aa577e1a0efffb9e8b603d49c7
https://doi.org/10.22209/ic.v62n1a07
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3
Occurrence of Thrombosis in Rare Bleeding Disorders
Autor: Arlette Ruiz-Saez
Publikováno v: Seminars in Thrombosis and Hemostasis. 39:684-692
Paradoxically, there are reports of thrombotic events for some rare bleeding disorders associated with significant bleeding tendency. Afibrinogenemia, factor (F) VII, or FXI deficiencies are those most commonly associated with venous or arterial thro
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0df7cfdc9dda762a5dcf06df4d2323ba
https://doi.org/10.1055/s-0033-1353391
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5
Fibrinogen Guarenas, an abnormal fibrinogen with an Aα-chain truncation due to a nonsense mutation at Aα 467 Glu (GAA)→stop (TAA)
Autor: Jeannette Soria, Carmen Luisa Arocha-Piñango, Michael Meyer, John W. Weisel, Rita Marchi, Arlette Ruiz-Saez, Zoila Carvajal
Publikováno v: Thrombosis Research. 118:637-650
Fibrinogen Guarenas is a dysfibrinogenemia with a nonsense mutation at G4731T that causes an Aalpha-chain truncation at Ser 466. This abnormal fibrinogen is associated with a bleeding diathesis, severe in the proposita and mild in one brother, even t
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9200501f4e978bf77d9deb48ce18dffe
https://doi.org/10.1016/j.thromres.2005.10.016
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6
Fibrinogen Guarenas I: Partial characterization of a new dysfibrinogenemia with an altered rate of fibrinopeptide release and an impaired polymerization
Autor: Rita Marchi, S. Rodríguez, Carmen Luisa Arocha-Piñango, Arlette Ruiz-Saez, Ulf Lundberg
Publikováno v: Thrombosis Research. 78:95-106
A congenitally abnormal fibrinogen was isolated from the blood of a young woman with a severe bleeding diathesis. Coagulation tests showed a prolonged Thrombin and Reptilase time partially corrected by Ca2+. Polymerization of thrombin induced preform
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::03391558090beb6dc6b918eb964384ca
https://doi.org/10.1016/0049-3848(95)00038-0
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7
A novel mutation in the FGB: c.1105CT turns the codon for amino acid Bβ Q339 into a stop codon causing hypofibrinogenemia
Autor: Arlette Ruiz-Saez, Marisela De Agrela, Rita Marchi, Daniela Kanzler, Héctor Rojas, Michael Meyer, Stephen O. Brennan
Publikováno v: Blood cells, moleculesdiseases. 50(3)
Routine coagulation tests on a 14year-old male with frequent epistaxis showed a prolonged thrombin time together with diminished functional (162mg/dl) and gravimetric (122mg/dl) fibrinogen concentrations. His father showed similar aberrant results an
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::67ab265d41e088e0510718c3b5d967ab
https://pubmed.ncbi.nlm.nih.gov/23266225
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8
Prothrombin Carora: hypoprothrombinaemia caused by substitution of Tyr-44 by Cys
Autor: Arlette Ruiz-Saez, William Sun, Norma B. de Bosch, Melissa C. Burkart, Sandra J. Friezner Degen
Publikováno v: British Journal of Haematology. 105:670-672
Two members of a family from Carora, Venezuela, were found to have prothrombin activity levels at 4% of normal and undetectable antigen levels. All exons of the prothrombin gene from the proband were sequenced and a mutation at nucleotide 1305 was id
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::b2146b29ec8896a89da607f310ef6674
https://doi.org/10.1046/j.1365-2141.1999.01395.x
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9
Diagnosis and treatment of congenital hemophilia with inhibitors a Latin American perspective
Autor: Raúl, Pérez Bianco, Margareth Castro, Ozelo, Paula Ribeiro, Villaça, Maria Helena, Solano, Guillermo, Jimenez Cruze, Carlos, Martinez Murillo, Jaime, Garcia Chavez, Saul, Mendoza, Ismael, Rodriguez Grecco, Arlette, Ruiz-Saez
Publikováno v: Medicina. 68(3)
The Committee of Latin America on the Therapeutics of Inhibitor Groups (CLOTTING) is composed of a number of hemophilia specialists from Latin America. The group aims to encourage the adoption of a good standard of care for Latin American patients wi
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::99a06cd61c321ebf610d820fdab4bd8b
https://pubmed.ncbi.nlm.nih.gov/18689157
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