Hereditary spherocytosis -- prevalence of erythrocyte membrane protein deficiency.

Detalhes bibliográficos
Autor(a) principal: Granjo, Elisa
Data de Publicação: 2012
Outros Autores: Manata, Pedro, Torres, Noémia, Rodrigues, Lurdes, Ferreira, Fátima, Bauerle, Roswitha, Quintanilha, Alexandre
Tipo de documento: Artigo
Idioma: por
Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Texto Completo: https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/1152
Resumo: The authors studied the relative prevalence of erythroid cytoskeletal protein defects and their relationship with the clinical course of Hereditary Spherocytosis (HS) in 39 Portuguese patients of North of Portugal (25 families). This study showed that, in the North of Portugal, HS is primarily due to anquirin deficiency (72%), followed by band 3 (20%). These findings are similar to the published data in other Caucasian populations. Anquirin primary defects have been difficult to diagnose before splenectomy, due to high reticulocytes counts.
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spelling Hereditary spherocytosis -- prevalence of erythrocyte membrane protein deficiency.Esferocitose hereditária--prevalência dos défices proteicos da membrana do eritrócito.The authors studied the relative prevalence of erythroid cytoskeletal protein defects and their relationship with the clinical course of Hereditary Spherocytosis (HS) in 39 Portuguese patients of North of Portugal (25 families). This study showed that, in the North of Portugal, HS is primarily due to anquirin deficiency (72%), followed by band 3 (20%). These findings are similar to the published data in other Caucasian populations. Anquirin primary defects have been difficult to diagnose before splenectomy, due to high reticulocytes counts.The authors studied the relative prevalence of erythroid cytoskeletal protein defects and their relationship with the clinical course of Hereditary Spherocytosis (HS) in 39 Portuguese patients of North of Portugal (25 families). This study showed that, in the North of Portugal, HS is primarily due to anquirin deficiency (72%), followed by band 3 (20%). These findings are similar to the published data in other Caucasian populations. Anquirin primary defects have been difficult to diagnose before splenectomy, due to high reticulocytes counts.Ordem dos Médicos2012-11-22info:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttps://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/1152oai:ojs.www.actamedicaportuguesa.com:article/1152Acta Médica Portuguesa; Vol. 16 No. 2 (2003): March-April; 65-9Acta Médica Portuguesa; Vol. 16 N.º 2 (2003): Março-Abril; 65-91646-07580870-399Xreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAPporhttps://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/1152https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/1152/804Granjo, ElisaManata, PedroTorres, NoémiaRodrigues, LurdesFerreira, FátimaBauerle, RoswithaQuintanilha, Alexandreinfo:eu-repo/semantics/openAccess2022-12-20T10:57:30Zoai:ojs.www.actamedicaportuguesa.com:article/1152Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T16:16:59.423465Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse
dc.title.none.fl_str_mv Hereditary spherocytosis -- prevalence of erythrocyte membrane protein deficiency.
Esferocitose hereditária--prevalência dos défices proteicos da membrana do eritrócito.
title Hereditary spherocytosis -- prevalence of erythrocyte membrane protein deficiency.
spellingShingle Hereditary spherocytosis -- prevalence of erythrocyte membrane protein deficiency.
Granjo, Elisa
title_short Hereditary spherocytosis -- prevalence of erythrocyte membrane protein deficiency.
title_full Hereditary spherocytosis -- prevalence of erythrocyte membrane protein deficiency.
title_fullStr Hereditary spherocytosis -- prevalence of erythrocyte membrane protein deficiency.
title_full_unstemmed Hereditary spherocytosis -- prevalence of erythrocyte membrane protein deficiency.
title_sort Hereditary spherocytosis -- prevalence of erythrocyte membrane protein deficiency.
author Granjo, Elisa
author_facet Granjo, Elisa
Manata, Pedro
Torres, Noémia
Rodrigues, Lurdes
Ferreira, Fátima
Bauerle, Roswitha
Quintanilha, Alexandre
author_role author
author2 Manata, Pedro
Torres, Noémia
Rodrigues, Lurdes
Ferreira, Fátima
Bauerle, Roswitha
Quintanilha, Alexandre
author2_role author
author
author
author
author
author
dc.contributor.author.fl_str_mv Granjo, Elisa
Manata, Pedro
Torres, Noémia
Rodrigues, Lurdes
Ferreira, Fátima
Bauerle, Roswitha
Quintanilha, Alexandre
description The authors studied the relative prevalence of erythroid cytoskeletal protein defects and their relationship with the clinical course of Hereditary Spherocytosis (HS) in 39 Portuguese patients of North of Portugal (25 families). This study showed that, in the North of Portugal, HS is primarily due to anquirin deficiency (72%), followed by band 3 (20%). These findings are similar to the published data in other Caucasian populations. Anquirin primary defects have been difficult to diagnose before splenectomy, due to high reticulocytes counts.
publishDate 2012
dc.date.none.fl_str_mv 2012-11-22
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/1152
oai:ojs.www.actamedicaportuguesa.com:article/1152
url https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/1152
identifier_str_mv oai:ojs.www.actamedicaportuguesa.com:article/1152
dc.language.iso.fl_str_mv por
language por
dc.relation.none.fl_str_mv https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/1152
https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/1152/804
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv Ordem dos Médicos
publisher.none.fl_str_mv Ordem dos Médicos
dc.source.none.fl_str_mv Acta Médica Portuguesa; Vol. 16 No. 2 (2003): March-April; 65-9
Acta Médica Portuguesa; Vol. 16 N.º 2 (2003): Março-Abril; 65-9
1646-0758
0870-399X
reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
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instacron:RCAAP
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instacron_str RCAAP
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repository.name.fl_str_mv Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
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