Diagnosis of von Willebrand disease in Argentina: a single institution experience

Autores
Woods, Adriana Inés; Kempfer, Ana Catalina; Paiva Palomino, Juvenal Hernán; Blanco, Alicia Noemi; Sánchez Luceros, Analía Gabriela; Lazzari, María Ángela
Año de publicación
2017
Idioma
inglés
Tipo de recurso
artículo
Estado
versión publicada
Descripción
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.
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; Argentina
Fil: 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; Argentina
Fil: Paiva Palomino, Juvenal Hernán. Academia Nacional de Medicina de Buenos Aires. Instituto de Investigaciones Hematológicas ; Argentina
Fil: Blanco, Alicia Noemi. Academia Nacional de Medicina de Buenos Aires. Instituto de Investigaciones Hematológicas ; Argentina
Fil: 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; Argentina
Fil: 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; Argentina
Materia
DESMOPRESSIN
PHENOTYPE
GENOTYPE
VON WILLEBRAND DISEASE
Nivel de accesibilidad
acceso abierto
Condiciones de uso
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
Repositorio
CONICET Digital (CONICET)
Institución
Consejo Nacional de Investigaciones Científicas y Técnicas
OAI Identificador
oai:ri.conicet.gov.ar:11336/45265
Acceder
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network_name_str CONICET Digital (CONICET)
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 Técnicas2025-09-03T09:59:05Zoai: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:34982025-09-03 09:59:05.526CONICET 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
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
topic DESMOPRESSIN
PHENOTYPE
GENOTYPE
VON WILLEBRAND DISEASE
purl_subject.fl_str_mv https://purl.org/becyt/ford/3.2
https://purl.org/becyt/ford/3
dc.description.none.fl_txt_mv 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.
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; Argentina
Fil: 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; Argentina
Fil: Paiva Palomino, Juvenal Hernán. Academia Nacional de Medicina de Buenos Aires. Instituto de Investigaciones Hematológicas ; Argentina
Fil: Blanco, Alicia Noemi. Academia Nacional de Medicina de Buenos Aires. Instituto de Investigaciones Hematológicas ; Argentina
Fil: 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; Argentina
Fil: 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; Argentina
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
reponame_str CONICET Digital (CONICET)
collection CONICET Digital (CONICET)
instname_str Consejo Nacional de Investigaciones Científicas y Técnicas
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 13.13397

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