Early infantile ceroid lipofuscinosis -- role of nuclear magnetic resonance in the diagnosis.

Detalhes bibliográficos
Autor(a) principal: Reis, A M
Data de Publicação: 2001
Outros Autores: Magalhães, Z, Barbosa, C, Alves, D, Pereira, J R
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/1810
Resumo: The authors report a case of Infantile Neuronal Ceroid Lipofuscinosis and emphasize the role of MRI in the diagnosis and follow-up of the disease describing a severe progressive cerebral atrophy. Clinical findings and laboratory data were reviewed and the importance of palmitoyl-protein thiosterase activity is described.
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spelling Early infantile ceroid lipofuscinosis -- role of nuclear magnetic resonance in the diagnosis.Lipofuscinose Ceroide Infantil Precoce--o papel da Ressonância Magnética Nuclear no diagnóstico.The authors report a case of Infantile Neuronal Ceroid Lipofuscinosis and emphasize the role of MRI in the diagnosis and follow-up of the disease describing a severe progressive cerebral atrophy. Clinical findings and laboratory data were reviewed and the importance of palmitoyl-protein thiosterase activity is described.The authors report a case of Infantile Neuronal Ceroid Lipofuscinosis and emphasize the role of MRI in the diagnosis and follow-up of the disease describing a severe progressive cerebral atrophy. Clinical findings and laboratory data were reviewed and the importance of palmitoyl-protein thiosterase activity is described.Ordem dos Médicos2001-02-27info:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttps://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/1810oai:ojs.www.actamedicaportuguesa.com:article/1810Acta Médica Portuguesa; Vol. 14 No. 1 (2001): Janeiro-Fevereiro; 95-7Acta Médica Portuguesa; Vol. 14 N.º 1 (2001): Janeiro-Fevereiro; 95-71646-07580870-399Xreponame: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/1810https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/1810/1387Reis, A MMagalhães, ZBarbosa, CAlves, DPereira, J Rinfo:eu-repo/semantics/openAccess2022-12-20T10:59:11Zoai:ojs.www.actamedicaportuguesa.com:article/1810Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T16:17:24.794671Repositório 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 Early infantile ceroid lipofuscinosis -- role of nuclear magnetic resonance in the diagnosis.
Lipofuscinose Ceroide Infantil Precoce--o papel da Ressonância Magnética Nuclear no diagnóstico.
title Early infantile ceroid lipofuscinosis -- role of nuclear magnetic resonance in the diagnosis.
spellingShingle Early infantile ceroid lipofuscinosis -- role of nuclear magnetic resonance in the diagnosis.
Reis, A M
title_short Early infantile ceroid lipofuscinosis -- role of nuclear magnetic resonance in the diagnosis.
title_full Early infantile ceroid lipofuscinosis -- role of nuclear magnetic resonance in the diagnosis.
title_fullStr Early infantile ceroid lipofuscinosis -- role of nuclear magnetic resonance in the diagnosis.
title_full_unstemmed Early infantile ceroid lipofuscinosis -- role of nuclear magnetic resonance in the diagnosis.
title_sort Early infantile ceroid lipofuscinosis -- role of nuclear magnetic resonance in the diagnosis.
author Reis, A M
author_facet Reis, A M
Magalhães, Z
Barbosa, C
Alves, D
Pereira, J R
author_role author
author2 Magalhães, Z
Barbosa, C
Alves, D
Pereira, J R
author2_role author
author
author
author
dc.contributor.author.fl_str_mv Reis, A M
Magalhães, Z
Barbosa, C
Alves, D
Pereira, J R
description The authors report a case of Infantile Neuronal Ceroid Lipofuscinosis and emphasize the role of MRI in the diagnosis and follow-up of the disease describing a severe progressive cerebral atrophy. Clinical findings and laboratory data were reviewed and the importance of palmitoyl-protein thiosterase activity is described.
publishDate 2001
dc.date.none.fl_str_mv 2001-02-27
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
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status_str publishedVersion
dc.identifier.uri.fl_str_mv https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/1810
oai:ojs.www.actamedicaportuguesa.com:article/1810
url https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/1810
identifier_str_mv oai:ojs.www.actamedicaportuguesa.com:article/1810
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/1810
https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/1810/1387
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. 14 No. 1 (2001): Janeiro-Fevereiro; 95-7
Acta Médica Portuguesa; Vol. 14 N.º 1 (2001): Janeiro-Fevereiro; 95-7
1646-0758
0870-399X
reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
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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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