Bardet-Biedl syndrome.
Autor(a) principal: | |
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Data de Publicação: | 2002 |
Outros Autores: | , , |
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/1905 |
Resumo: | Bardet-Biedl syndrome is a rare disease characterized by pigmentary retinopathy, dysmorphic extremities, obesity, renal abnormalities and hypogonadism only in men. The authors present a typical case and made a brief commentary about the disease's cardinal manifestations. |
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Bardet-Biedl syndrome.Síndroma de Bardet-Biedl.Bardet-Biedl syndrome is a rare disease characterized by pigmentary retinopathy, dysmorphic extremities, obesity, renal abnormalities and hypogonadism only in men. The authors present a typical case and made a brief commentary about the disease's cardinal manifestations.Bardet-Biedl syndrome is a rare disease characterized by pigmentary retinopathy, dysmorphic extremities, obesity, renal abnormalities and hypogonadism only in men. The authors present a typical case and made a brief commentary about the disease's cardinal manifestations.Ordem dos Médicos2002-02-27info:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttps://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/1905oai:ojs.www.actamedicaportuguesa.com:article/1905Acta Médica Portuguesa; Vol. 15 No. 1 (2002): Janeiro-Fevereiro; 51-54Acta Médica Portuguesa; Vol. 15 N.º 1 (2002): Janeiro-Fevereiro; 51-541646-07580870-399Xreponame: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/1905https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/1905/1473Siopa, LuísGrego, ManuelaCossa, JoelPinguinha, Albertoinfo:eu-repo/semantics/openAccess2022-12-20T10:59:28Zoai:ojs.www.actamedicaportuguesa.com:article/1905Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T16:17:28.294231Repositório 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 |
Bardet-Biedl syndrome. Síndroma de Bardet-Biedl. |
title |
Bardet-Biedl syndrome. |
spellingShingle |
Bardet-Biedl syndrome. Siopa, Luís |
title_short |
Bardet-Biedl syndrome. |
title_full |
Bardet-Biedl syndrome. |
title_fullStr |
Bardet-Biedl syndrome. |
title_full_unstemmed |
Bardet-Biedl syndrome. |
title_sort |
Bardet-Biedl syndrome. |
author |
Siopa, Luís |
author_facet |
Siopa, Luís Grego, Manuela Cossa, Joel Pinguinha, Alberto |
author_role |
author |
author2 |
Grego, Manuela Cossa, Joel Pinguinha, Alberto |
author2_role |
author author author |
dc.contributor.author.fl_str_mv |
Siopa, Luís Grego, Manuela Cossa, Joel Pinguinha, Alberto |
description |
Bardet-Biedl syndrome is a rare disease characterized by pigmentary retinopathy, dysmorphic extremities, obesity, renal abnormalities and hypogonadism only in men. The authors present a typical case and made a brief commentary about the disease's cardinal manifestations. |
publishDate |
2002 |
dc.date.none.fl_str_mv |
2002-02-27 |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
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info:eu-repo/semantics/article |
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article |
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publishedVersion |
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https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/1905 oai:ojs.www.actamedicaportuguesa.com:article/1905 |
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https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/1905 |
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oai:ojs.www.actamedicaportuguesa.com:article/1905 |
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por |
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por |
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https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/1905 https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/1905/1473 |
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info:eu-repo/semantics/openAccess |
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openAccess |
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application/pdf |
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Ordem dos Médicos |
publisher.none.fl_str_mv |
Ordem dos Médicos |
dc.source.none.fl_str_mv |
Acta Médica Portuguesa; Vol. 15 No. 1 (2002): Janeiro-Fevereiro; 51-54 Acta Médica Portuguesa; Vol. 15 N.º 1 (2002): Janeiro-Fevereiro; 51-54 1646-0758 0870-399X reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação instacron:RCAAP |
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Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
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RCAAP |
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RCAAP |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
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