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Successful multi‐modal immune tolerance induction for factor IX deficiency with inhibitors and allergic reactions

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2. Schneppenheim R, Federici AB, Budde U, et al. von Willebrand disease type 2M “Vicenza” in Italian and German patients: identification of the first candidate mutation (G3864A; R1205H) in 8… Click to show full abstract

2. Schneppenheim R, Federici AB, Budde U, et al. von Willebrand disease type 2M “Vicenza” in Italian and German patients: identification of the first candidate mutation (G3864A; R1205H) in 8 families. Thromb Haemost. 2000;82:136-140. 3. Casonato A, Pontara E, Sartorello F, et al. Reduced von Willebrand factor survival in type Vicenza von Willebrand disease. Blood. 2002;99:180-184. 4. Goodeve AC, Schneppenheim R. Molecular diagnosis of von Willebrand disease: the genotype. In: Federic AB, Lee CA, Berntorp EE, Lillicrap D, Montgomery RR, eds. Von Willebrand disease. Basic and Clinical Aspects. Hoboken, N.J. : Wiley-Blackwell; 2011:114-124. 5. Mancuso DJ, Tuley EA, Westfield LA, et al. Structure of the gene for human von Willebrand factor. J Biol Chem. 1989;264:19514-19527. 6. Cumming A, Grundy P, Keeney S, et al. An investigation of the von Willebrand factor genotype in UK patients diagnosed to have type 1 von Willebrand disease. Thromb Haemost. 2006;96:630-641. 7. Goodeve A, Eikenboom J, Castaman G, et al. Phenotype and genotype of a cohort of families historically diagnosed type I von Willebrand disease in European study, molecular and clinical markers for the diagnosis and management of type 1 von Willebrand disease (MCMDM1VWD). Blood. 2007;109:112-121. 8. James PD, Notley C, Hegadorn C, et al. The mutational spectrum of type 1 von Willebrand disease: results from a Canadian cohort study. Blood. 2007;109:145-154. 9. Hashemi Soteh SMB, Anson J, Inbal A, Peake IR, Goodeve AC. Reevaluation of three Israeli families initially diagnosed with type 1 von Willebrand disease in light of the ISTH update on von Willebrand factor pathophysiology and classification. Haemophilia. 2008;14:621-624. 10. Lester WA, Guilliatt AM, Surdhar GK, et al. Inherited and de novo von Willebrand disease ‘Vicenza’ in UK families with the R1205 mutation: diagnostic pitfalls and new insights. Br J Haematol. 2006;135: 91-96.

Keywords: factor; willebrand; von willebrand; willebrand disease

Journal Title: Haemophilia
Year Published: 2018

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