Inherited disorders of purine and pyrimidine metabolism. State of art. Contribution for diagnosis.

Detalhes bibliográficos
Autor(a) principal: Diogo, Luísa
Data de Publicação: 2004
Outros Autores: Proença, Teresa, Garcia, Paula, Olveira, Catarina, Simmonds, Anne
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/1751
Resumo: Inherited errors of purine and pyrimidine metabolism are a group of disorders with a broad spectrum of clinical manifestations. They may involve nervous, renal, haematological and immunological systems, presenting at any age. The incidence and prevalence of these disorders are unknown. Most clinicians are not aware of their existence and hospital laboratories do not offer conditions for the screening. We have been associated contractor in an european project for the study of these disorders. It enabled us to set up urinary screening methods and establish normal values for urinary purine and pyrimidine in our paediatric population.
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spelling Inherited disorders of purine and pyrimidine metabolism. State of art. Contribution for diagnosis.Doenças hereditárias das purinas e pirimidinas. Estado da arte. Contribuição para o diagnóstico.Inherited errors of purine and pyrimidine metabolism are a group of disorders with a broad spectrum of clinical manifestations. They may involve nervous, renal, haematological and immunological systems, presenting at any age. The incidence and prevalence of these disorders are unknown. Most clinicians are not aware of their existence and hospital laboratories do not offer conditions for the screening. We have been associated contractor in an european project for the study of these disorders. It enabled us to set up urinary screening methods and establish normal values for urinary purine and pyrimidine in our paediatric population.Inherited errors of purine and pyrimidine metabolism are a group of disorders with a broad spectrum of clinical manifestations. They may involve nervous, renal, haematological and immunological systems, presenting at any age. The incidence and prevalence of these disorders are unknown. Most clinicians are not aware of their existence and hospital laboratories do not offer conditions for the screening. We have been associated contractor in an european project for the study of these disorders. It enabled us to set up urinary screening methods and establish normal values for urinary purine and pyrimidine in our paediatric population.Ordem dos Médicos2004-02-27info:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttps://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/1751oai:ojs.www.actamedicaportuguesa.com:article/1751Acta Médica Portuguesa; Vol. 17 No. 1 (2004): Janeiro-Fevereiro; 67-9Acta Médica Portuguesa; Vol. 17 N.º 1 (2004): Janeiro-Fevereiro; 67-91646-07580870-399Xreponame: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/1751https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/1751/1328Diogo, LuísaProença, TeresaGarcia, PaulaOlveira, CatarinaSimmonds, Anneinfo:eu-repo/semantics/openAccess2022-12-20T10:58:51Zoai:ojs.www.actamedicaportuguesa.com:article/1751Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T16:17:22.010424Repositório 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 Inherited disorders of purine and pyrimidine metabolism. State of art. Contribution for diagnosis.
Doenças hereditárias das purinas e pirimidinas. Estado da arte. Contribuição para o diagnóstico.
title Inherited disorders of purine and pyrimidine metabolism. State of art. Contribution for diagnosis.
spellingShingle Inherited disorders of purine and pyrimidine metabolism. State of art. Contribution for diagnosis.
Diogo, Luísa
title_short Inherited disorders of purine and pyrimidine metabolism. State of art. Contribution for diagnosis.
title_full Inherited disorders of purine and pyrimidine metabolism. State of art. Contribution for diagnosis.
title_fullStr Inherited disorders of purine and pyrimidine metabolism. State of art. Contribution for diagnosis.
title_full_unstemmed Inherited disorders of purine and pyrimidine metabolism. State of art. Contribution for diagnosis.
title_sort Inherited disorders of purine and pyrimidine metabolism. State of art. Contribution for diagnosis.
author Diogo, Luísa
author_facet Diogo, Luísa
Proença, Teresa
Garcia, Paula
Olveira, Catarina
Simmonds, Anne
author_role author
author2 Proença, Teresa
Garcia, Paula
Olveira, Catarina
Simmonds, Anne
author2_role author
author
author
author
dc.contributor.author.fl_str_mv Diogo, Luísa
Proença, Teresa
Garcia, Paula
Olveira, Catarina
Simmonds, Anne
description Inherited errors of purine and pyrimidine metabolism are a group of disorders with a broad spectrum of clinical manifestations. They may involve nervous, renal, haematological and immunological systems, presenting at any age. The incidence and prevalence of these disorders are unknown. Most clinicians are not aware of their existence and hospital laboratories do not offer conditions for the screening. We have been associated contractor in an european project for the study of these disorders. It enabled us to set up urinary screening methods and establish normal values for urinary purine and pyrimidine in our paediatric population.
publishDate 2004
dc.date.none.fl_str_mv 2004-02-27
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dc.language.iso.fl_str_mv por
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dc.relation.none.fl_str_mv https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/1751
https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/1751/1328
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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. 17 No. 1 (2004): Janeiro-Fevereiro; 67-9
Acta Médica Portuguesa; Vol. 17 N.º 1 (2004): Janeiro-Fevereiro; 67-9
1646-0758
0870-399X
reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
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