National screening for phenylketonuria, congenital hypothyroidism and congenital adrenal hyperplasia.

Detalhes bibliográficos
Autor(a) principal: Osório, R V
Data de Publicação: 1992
Outros Autores: Vilarinho, L, Soares, J P
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/3215
Resumo: In Portugal the screening for phenylketonuria (PKU) and congenital hypothyroidism (CH) was begun towards the end of 1979, and by 1990 59 cases of PKU and 227 cases of CH had been detected. The early initiation of treatment and the observed mental and motor development, point towards a normal development in these children. A trial screen for congenital adrenal hyperplasia was carried out in 100.000 newborns, from which it was concluded that, under the present conditions, screening at a national level is not justified. A similar study is currently being undertaken for biotinidase deficiency and cystic fibrosis. The results ares discussed, as are the cost/benefits evaluations.
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spelling National screening for phenylketonuria, congenital hypothyroidism and congenital adrenal hyperplasia.Rastreio nacional da fenilcetonúria, hipotiroidismo congénito e hiperplasia congénita das suprarrenais.In Portugal the screening for phenylketonuria (PKU) and congenital hypothyroidism (CH) was begun towards the end of 1979, and by 1990 59 cases of PKU and 227 cases of CH had been detected. The early initiation of treatment and the observed mental and motor development, point towards a normal development in these children. A trial screen for congenital adrenal hyperplasia was carried out in 100.000 newborns, from which it was concluded that, under the present conditions, screening at a national level is not justified. A similar study is currently being undertaken for biotinidase deficiency and cystic fibrosis. The results ares discussed, as are the cost/benefits evaluations.In Portugal the screening for phenylketonuria (PKU) and congenital hypothyroidism (CH) was begun towards the end of 1979, and by 1990 59 cases of PKU and 227 cases of CH had been detected. The early initiation of treatment and the observed mental and motor development, point towards a normal development in these children. A trial screen for congenital adrenal hyperplasia was carried out in 100.000 newborns, from which it was concluded that, under the present conditions, screening at a national level is not justified. A similar study is currently being undertaken for biotinidase deficiency and cystic fibrosis. The results ares discussed, as are the cost/benefits evaluations.Ordem dos Médicos1992-03-30info:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttps://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/3215oai:ojs.www.actamedicaportuguesa.com:article/3215Acta Médica Portuguesa; Vol. 5 No. 3 (1992): Março; 131-4Acta Médica Portuguesa; Vol. 5 N.º 3 (1992): Março; 131-41646-07580870-399Xreponame: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/3215https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/3215/2554Osório, R VVilarinho, LSoares, J Pinfo:eu-repo/semantics/openAccess2022-12-20T11:01:54Zoai:ojs.www.actamedicaportuguesa.com:article/3215Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T16:18:13.903743Repositório 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 National screening for phenylketonuria, congenital hypothyroidism and congenital adrenal hyperplasia.
Rastreio nacional da fenilcetonúria, hipotiroidismo congénito e hiperplasia congénita das suprarrenais.
title National screening for phenylketonuria, congenital hypothyroidism and congenital adrenal hyperplasia.
spellingShingle National screening for phenylketonuria, congenital hypothyroidism and congenital adrenal hyperplasia.
Osório, R V
title_short National screening for phenylketonuria, congenital hypothyroidism and congenital adrenal hyperplasia.
title_full National screening for phenylketonuria, congenital hypothyroidism and congenital adrenal hyperplasia.
title_fullStr National screening for phenylketonuria, congenital hypothyroidism and congenital adrenal hyperplasia.
title_full_unstemmed National screening for phenylketonuria, congenital hypothyroidism and congenital adrenal hyperplasia.
title_sort National screening for phenylketonuria, congenital hypothyroidism and congenital adrenal hyperplasia.
author Osório, R V
author_facet Osório, R V
Vilarinho, L
Soares, J P
author_role author
author2 Vilarinho, L
Soares, J P
author2_role author
author
dc.contributor.author.fl_str_mv Osório, R V
Vilarinho, L
Soares, J P
description In Portugal the screening for phenylketonuria (PKU) and congenital hypothyroidism (CH) was begun towards the end of 1979, and by 1990 59 cases of PKU and 227 cases of CH had been detected. The early initiation of treatment and the observed mental and motor development, point towards a normal development in these children. A trial screen for congenital adrenal hyperplasia was carried out in 100.000 newborns, from which it was concluded that, under the present conditions, screening at a national level is not justified. A similar study is currently being undertaken for biotinidase deficiency and cystic fibrosis. The results ares discussed, as are the cost/benefits evaluations.
publishDate 1992
dc.date.none.fl_str_mv 1992-03-30
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dc.type.driver.fl_str_mv info:eu-repo/semantics/article
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url https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/3215
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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/3215
https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/3215/2554
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
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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. 5 No. 3 (1992): Março; 131-4
Acta Médica Portuguesa; Vol. 5 N.º 3 (1992): Março; 131-4
1646-0758
0870-399X
reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
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