Hydrops fetalis associated with erythrocyte pyruvate kinase deficiency

Detalhes bibliográficos
Autor(a) principal: Ferreira, Paula
Data de Publicação: 2000
Outros Autores: Morais, Lurdes, Costa, Ricardo, Resende, C., Dias, Clara Paz, Araújo, Filomena, Costa, Elísio, Barbot, José, Vilarinho, António
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Texto Completo: http://hdl.handle.net/10198/495
Resumo: The authors report a case of hydrops fetalis due to severe pyruvate kinase deficiency, the most unusual clinical manifestation of this disease. Conclusion Pyruvate kinase deficiency, as other erythrocyte enzymopathies, must be considered in the diferential diagnosis of non-immune hydrops fetalis. This has important implications for clinical investigations, therapy and genetic counselling.
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spelling Hydrops fetalis associated with erythrocyte pyruvate kinase deficiencyPyruvate kinaseHydrops fetalisHaemolytic anaemiaMutationsThe authors report a case of hydrops fetalis due to severe pyruvate kinase deficiency, the most unusual clinical manifestation of this disease. Conclusion Pyruvate kinase deficiency, as other erythrocyte enzymopathies, must be considered in the diferential diagnosis of non-immune hydrops fetalis. This has important implications for clinical investigations, therapy and genetic counselling.SpringerBiblioteca Digital do IPBFerreira, PaulaMorais, LurdesCosta, RicardoResende, C.Dias, Clara PazAraújo, FilomenaCosta, ElísioBarbot, JoséVilarinho, António2008-02-19T15:11:17Z20002000-01-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10198/495engFerreira, Paula; Morais, Lurdes; Costa, Ricardo; Resende, Carlos; Paz Dias, Clara; Araújo, Filomena; Costa, Elísio; Barbot, José; Vilarinho, António (2000). Hydrops fetalis associated with erythrocyte pyruvate kinase deficiency. European Journal of Pediatrics. ISSN 0340-6199. 159:7, p. 481-4820340-6199info:eu-repo/semantics/openAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2023-12-20T01:17:50Zoai:bibliotecadigital.ipb.pt:10198/495Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T22:54:17.132690Repositório 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 Hydrops fetalis associated with erythrocyte pyruvate kinase deficiency
title Hydrops fetalis associated with erythrocyte pyruvate kinase deficiency
spellingShingle Hydrops fetalis associated with erythrocyte pyruvate kinase deficiency
Ferreira, Paula
Pyruvate kinase
Hydrops fetalis
Haemolytic anaemia
Mutations
title_short Hydrops fetalis associated with erythrocyte pyruvate kinase deficiency
title_full Hydrops fetalis associated with erythrocyte pyruvate kinase deficiency
title_fullStr Hydrops fetalis associated with erythrocyte pyruvate kinase deficiency
title_full_unstemmed Hydrops fetalis associated with erythrocyte pyruvate kinase deficiency
title_sort Hydrops fetalis associated with erythrocyte pyruvate kinase deficiency
author Ferreira, Paula
author_facet Ferreira, Paula
Morais, Lurdes
Costa, Ricardo
Resende, C.
Dias, Clara Paz
Araújo, Filomena
Costa, Elísio
Barbot, José
Vilarinho, António
author_role author
author2 Morais, Lurdes
Costa, Ricardo
Resende, C.
Dias, Clara Paz
Araújo, Filomena
Costa, Elísio
Barbot, José
Vilarinho, António
author2_role author
author
author
author
author
author
author
author
dc.contributor.none.fl_str_mv Biblioteca Digital do IPB
dc.contributor.author.fl_str_mv Ferreira, Paula
Morais, Lurdes
Costa, Ricardo
Resende, C.
Dias, Clara Paz
Araújo, Filomena
Costa, Elísio
Barbot, José
Vilarinho, António
dc.subject.por.fl_str_mv Pyruvate kinase
Hydrops fetalis
Haemolytic anaemia
Mutations
topic Pyruvate kinase
Hydrops fetalis
Haemolytic anaemia
Mutations
description The authors report a case of hydrops fetalis due to severe pyruvate kinase deficiency, the most unusual clinical manifestation of this disease. Conclusion Pyruvate kinase deficiency, as other erythrocyte enzymopathies, must be considered in the diferential diagnosis of non-immune hydrops fetalis. This has important implications for clinical investigations, therapy and genetic counselling.
publishDate 2000
dc.date.none.fl_str_mv 2000
2000-01-01T00:00:00Z
2008-02-19T15:11:17Z
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 http://hdl.handle.net/10198/495
url http://hdl.handle.net/10198/495
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv Ferreira, Paula; Morais, Lurdes; Costa, Ricardo; Resende, Carlos; Paz Dias, Clara; Araújo, Filomena; Costa, Elísio; Barbot, José; Vilarinho, António (2000). Hydrops fetalis associated with erythrocyte pyruvate kinase deficiency. European Journal of Pediatrics. ISSN 0340-6199. 159:7, p. 481-482
0340-6199
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 Springer
publisher.none.fl_str_mv Springer
dc.source.none.fl_str_mv reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
instacron:RCAAP
instname_str Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
instacron_str RCAAP
institution RCAAP
reponame_str Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
collection Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
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
repository.mail.fl_str_mv
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