Diagnosis of von Willebrand disease in Argentina: a single institution experience
von Willebrand disease (VWD) is the most common autosomal bleeding disorder, mostlyinherited as dominant trait. VWD is due to deficiency/abnormality of von Willebrand factor (VWF). Thetrue prevalence of VWD is unknown, but estimated as 0.1% to 1% of the general population. The bleeding score (BS) wa...
| Autores: | , , , , , |
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| Tipo de recurso: | artículo |
| Estado: | Versión publicada |
| Fecha de publicación: | 2017 |
| País: | Argentina |
| Institución: | Consejo Nacional de Investigaciones Científicas y Técnicas |
| Repositorio: | CONICET Digital (CONICET) |
| Idioma: | inglés |
| OAI Identifier: | oai:ri.conicet.gov.ar:11336/45265 |
| Acceso en línea: | http://hdl.handle.net/11336/45265 |
| Access Level: | acceso abierto |
| Palabra clave: | DESMOPRESSIN PHENOTYPE GENOTYPE VON WILLEBRAND DISEASE https://purl.org/becyt/ford/3.2 https://purl.org/becyt/ford/3 |
| Sumario: | von Willebrand disease (VWD) is the most common autosomal bleeding disorder, mostlyinherited as dominant trait. VWD is due to deficiency/abnormality of von Willebrand factor (VWF). Thetrue prevalence of VWD is unknown, but estimated as 0.1% to 1% of the general population. The bleeding score (BS) was used to evaluate the bleeding status of patients presenting atour institution. Laboratory analyses include: VWF:Ag, VWF:RCo, VWF:CB, multimeric pattern, VWFpropeptide, Desmopressin challenge test. Genotypic analysis comprises the study of specific exons of VWF,depending on the suspected variant. |
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