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Norma B de Bosch

Explore the profile of Norma B de Bosch including associated specialties, affiliations and a list of published articles. Areas
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Articles 5
Citations 138
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Recent Articles
1.
Fernandez-Palazzi F, Viso R, Boadas A, Ruiz-Saez A, Falcon de Vargas A, de Bosch N
Srp Arh Celok Lek . 2010 Mar; 138 Suppl 1:39-42. PMID: 20229681
One of the best procedures to prevent haemarthrosis in haemophilia has been radioactive synovectomy (radiosynoviorthesis). Since 1976 we have performed 119 radiosynoviortheses in 110 patients, aged from 3 to 40...
2.
Pestana C, Torres A, Blanco S, Rojas M, Mendez C, Lopez J, et al.
Genet Test Mol Biomarkers . 2009 Jul; 13(4):537-42. PMID: 19604111
The most common genetic defect associated with deep vein thrombosis (DVT) is a mutation in the Factor V gene (G1691A), known as Factor V Leiden (FVL). We investigated the genotypes...
3.
Zhang B, McGee B, Yamaoka J, Guglielmone H, Downes K, Minoldo S, et al.
Blood . 2005 Nov; 107(5):1903-7. PMID: 16304051
Mutations in LMAN1 (ERGIC-53) or MCFD2 cause combined deficiency of factor V and factor VIII (F5F8D). LMAN1 and MCFD2 form a protein complex that functions as a cargo receptor ferrying...
4.
Marchi R, Meyer M, de Bosch N, Arocha-Pinango C, Weisel J
Blood Coagul Fibrinolysis . 2004 Sep; 15(7):559-67. PMID: 15389122
An abnormal fibrinogen was identified in a 10-year-old male with a mild bleeding tendency; several years later, the patient developed a thrombotic event. Fibrin polymerization of plasma from the propositus...
5.
Zhang B, Cunningham M, Nichols W, Bernat J, Seligsohn U, Pipe S, et al.
Nat Genet . 2003 Apr; 34(2):220-5. PMID: 12717434
Mutations in LMAN1 (also called ERGIC-53) result in combined deficiency of factor V and factor VIII (F5F8D), an autosomal recessive bleeding disorder characterized by coordinate reduction of both clotting proteins....