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...

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Detalles Bibliográficos
Autores: Woods, Adriana Inés, Kempfer, Ana Catalina, Paiva Palomino, Juvenal Hernán, Blanco, Alicia Noemi, Sánchez Luceros, Analía Gabriela, Lazzari, María Ángela
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
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network_acronym_str AR
network_name_str Argentina
repository_id_str
spelling Diagnosis of von Willebrand disease in Argentina: a single institution experienceWoods, Adriana InésKempfer, Ana CatalinaPaiva Palomino, Juvenal HernánBlanco, Alicia NoemiSánchez Luceros, Analía GabrielaLazzari, María ÁngelaDESMOPRESSINPHENOTYPEGENOTYPEVON WILLEBRAND DISEASEhttps://purl.org/becyt/ford/3.2https://purl.org/becyt/ford/3von 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.Fil: Woods, Adriana Inés. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Medicina Experimental. Academia Nacional de Medicina de Buenos Aires. Instituto de Medicina Experimental; ArgentinaFil: Kempfer, Ana Catalina. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Medicina Experimental. Academia Nacional de Medicina de Buenos Aires. Instituto de Medicina Experimental; ArgentinaFil: Paiva Palomino, Juvenal Hernán. Academia Nacional de Medicina de Buenos Aires. Instituto de Investigaciones Hematológicas ; ArgentinaFil: Blanco, Alicia Noemi. Academia Nacional de Medicina de Buenos Aires. Instituto de Investigaciones Hematológicas ; ArgentinaFil: Sánchez Luceros, Analía Gabriela. Academia Nacional de Medicina de Buenos Aires. Instituto de Investigaciones Hematológicas ; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Medicina Experimental. Academia Nacional de Medicina de Buenos Aires. Instituto de Medicina Experimental; ArgentinaFil: Lazzari, María Ángela. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Medicina Experimental. Academia Nacional de Medicina de Buenos Aires. Instituto de Medicina Experimental; ArgentinaAme publishing group2017-12info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttp://purl.org/coar/resource_type/c_6501info:ar-repo/semantics/articuloapplication/pdfapplication/pdfhttp://hdl.handle.net/11336/45265Woods, Adriana Inés; Kempfer, Ana Catalina; Paiva Palomino, Juvenal Hernán; Blanco, Alicia Noemi; Sánchez Luceros, Analía Gabriela; et al.; Diagnosis of von Willebrand disease in Argentina: a single institution experience; Ame publishing group; Annals of Blood; 2; 12-2017; 22-342521-361X2521-361XCONICET DigitalCONICETenginfo:eu-repo/semantics/altIdentifier/url/http://aob.amegroups.com/article/view/4207/4934info:eu-repo/semantics/altIdentifier/doi/10.21037/aob.2017.12.04info:eu-repo/semantics/openAccesshttps://creativecommons.org/licenses/by-nc-sa/2.5/ar/reponame:CONICET Digital (CONICET)instname:Consejo Nacional de Investigaciones Científicas y Técnicas2024-05-08T13:59:40Zoai:ri.conicet.gov.ar:11336/45265instacron:CONICETInstitucionalhttp://ri.conicet.gov.ar/Organismo científico-tecnológicoNo correspondehttp://ri.conicet.gov.ar/oai/requestdasensio@conicet.gov.ar; lcarlino@conicet.gov.arArgentinaNo correspondeNo correspondeNo correspondeopendoar:34982024-05-08 13:59:41.02CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicasfalse
dc.title.none.fl_str_mv Diagnosis of von Willebrand disease in Argentina: a single institution experience
title Diagnosis of von Willebrand disease in Argentina: a single institution experience
spellingShingle Diagnosis of von Willebrand disease in Argentina: a single institution experience
Woods, Adriana Inés
DESMOPRESSIN
PHENOTYPE
GENOTYPE
VON WILLEBRAND DISEASE
https://purl.org/becyt/ford/3.2
https://purl.org/becyt/ford/3
title_short Diagnosis of von Willebrand disease in Argentina: a single institution experience
title_full Diagnosis of von Willebrand disease in Argentina: a single institution experience
title_fullStr Diagnosis of von Willebrand disease in Argentina: a single institution experience
title_full_unstemmed Diagnosis of von Willebrand disease in Argentina: a single institution experience
title_sort Diagnosis of von Willebrand disease in Argentina: a single institution experience
dc.creator.none.fl_str_mv Woods, Adriana Inés
Kempfer, Ana Catalina
Paiva Palomino, Juvenal Hernán
Blanco, Alicia Noemi
Sánchez Luceros, Analía Gabriela
Lazzari, María Ángela
author Woods, Adriana Inés
author_facet Woods, Adriana Inés
Kempfer, Ana Catalina
Paiva Palomino, Juvenal Hernán
Blanco, Alicia Noemi
Sánchez Luceros, Analía Gabriela
Lazzari, María Ángela
author_role author
author2 Kempfer, Ana Catalina
Paiva Palomino, Juvenal Hernán
Blanco, Alicia Noemi
Sánchez Luceros, Analía Gabriela
Lazzari, María Ángela
author2_role author
author
author
author
author
dc.subject.none.fl_str_mv DESMOPRESSIN
PHENOTYPE
GENOTYPE
VON WILLEBRAND DISEASE
https://purl.org/becyt/ford/3.2
https://purl.org/becyt/ford/3
topic DESMOPRESSIN
PHENOTYPE
GENOTYPE
VON WILLEBRAND DISEASE
https://purl.org/becyt/ford/3.2
https://purl.org/becyt/ford/3
description 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.
publishDate 2017
dc.date.none.fl_str_mv 2017-12
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
http://purl.org/coar/resource_type/c_6501
info:ar-repo/semantics/articulo
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv http://hdl.handle.net/11336/45265
Woods, Adriana Inés; Kempfer, Ana Catalina; Paiva Palomino, Juvenal Hernán; Blanco, Alicia Noemi; Sánchez Luceros, Analía Gabriela; et al.; Diagnosis of von Willebrand disease in Argentina: a single institution experience; Ame publishing group; Annals of Blood; 2; 12-2017; 22-34
2521-361X
2521-361X
CONICET Digital
CONICET
url http://hdl.handle.net/11336/45265
identifier_str_mv Woods, Adriana Inés; Kempfer, Ana Catalina; Paiva Palomino, Juvenal Hernán; Blanco, Alicia Noemi; Sánchez Luceros, Analía Gabriela; et al.; Diagnosis of von Willebrand disease in Argentina: a single institution experience; Ame publishing group; Annals of Blood; 2; 12-2017; 22-34
2521-361X
CONICET Digital
CONICET
dc.language.none.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv info:eu-repo/semantics/altIdentifier/url/http://aob.amegroups.com/article/view/4207/4934
info:eu-repo/semantics/altIdentifier/doi/10.21037/aob.2017.12.04
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
eu_rights_str_mv openAccess
rights_invalid_str_mv https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
dc.format.none.fl_str_mv application/pdf
application/pdf
dc.publisher.none.fl_str_mv Ame publishing group
publisher.none.fl_str_mv Ame publishing group
dc.source.none.fl_str_mv reponame:CONICET Digital (CONICET)
instname:Consejo Nacional de Investigaciones Científicas y Técnicas
instname_str Consejo Nacional de Investigaciones Científicas y Técnicas
reponame_str CONICET Digital (CONICET)
collection CONICET Digital (CONICET)
repository.name.fl_str_mv CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicas
repository.mail.fl_str_mv dasensio@conicet.gov.ar; lcarlino@conicet.gov.ar
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score 15.811543

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