Hereditary fructose intolerance.
Autor(a) principal: | |
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Data de Publicação: | 1998 |
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/2355 |
Resumo: | Hereditary fructose intolerance (HFI) is a rare autosomal recessive, metabolic disorder, that results from a deficiency of aldolase B (fructose-biphosphate aldolase) in the liver, kidney and intestine. Recent molecular studies have identified the mutation A149P in most European patients. We describe the first case of HFI with molecular analysis in a Portuguese child, presenting the same mutation of the aldolase B gene. The role of molecular studies in the diagnosis of HFI risk patients and their families is emphasized. |
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Hereditary fructose intolerance.Intolerância hereditária à frutose.Hereditary fructose intolerance (HFI) is a rare autosomal recessive, metabolic disorder, that results from a deficiency of aldolase B (fructose-biphosphate aldolase) in the liver, kidney and intestine. Recent molecular studies have identified the mutation A149P in most European patients. We describe the first case of HFI with molecular analysis in a Portuguese child, presenting the same mutation of the aldolase B gene. The role of molecular studies in the diagnosis of HFI risk patients and their families is emphasized.Hereditary fructose intolerance (HFI) is a rare autosomal recessive, metabolic disorder, that results from a deficiency of aldolase B (fructose-biphosphate aldolase) in the liver, kidney and intestine. Recent molecular studies have identified the mutation A149P in most European patients. We describe the first case of HFI with molecular analysis in a Portuguese child, presenting the same mutation of the aldolase B gene. The role of molecular studies in the diagnosis of HFI risk patients and their families is emphasized.Ordem dos Médicos1998-12-30info:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttps://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/2355oai:ojs.www.actamedicaportuguesa.com:article/2355Acta Médica Portuguesa; Vol. 11 No. 12 (1998): Dezembro; 1121-5Acta Médica Portuguesa; Vol. 11 N.º 12 (1998): Dezembro; 1121-51646-07580870-399Xreponame: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/2355https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/2355/1773Lopes, A IAlmeida, A GCosta, A ECosta, ALeite, Minfo:eu-repo/semantics/openAccess2022-12-20T11:00:22Zoai:ojs.www.actamedicaportuguesa.com:article/2355Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T16:17:41.485237Repositório 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 |
Hereditary fructose intolerance. Intolerância hereditária à frutose. |
title |
Hereditary fructose intolerance. |
spellingShingle |
Hereditary fructose intolerance. Lopes, A I |
title_short |
Hereditary fructose intolerance. |
title_full |
Hereditary fructose intolerance. |
title_fullStr |
Hereditary fructose intolerance. |
title_full_unstemmed |
Hereditary fructose intolerance. |
title_sort |
Hereditary fructose intolerance. |
author |
Lopes, A I |
author_facet |
Lopes, A I Almeida, A G Costa, A E Costa, A Leite, M |
author_role |
author |
author2 |
Almeida, A G Costa, A E Costa, A Leite, M |
author2_role |
author author author author |
dc.contributor.author.fl_str_mv |
Lopes, A I Almeida, A G Costa, A E Costa, A Leite, M |
description |
Hereditary fructose intolerance (HFI) is a rare autosomal recessive, metabolic disorder, that results from a deficiency of aldolase B (fructose-biphosphate aldolase) in the liver, kidney and intestine. Recent molecular studies have identified the mutation A149P in most European patients. We describe the first case of HFI with molecular analysis in a Portuguese child, presenting the same mutation of the aldolase B gene. The role of molecular studies in the diagnosis of HFI risk patients and their families is emphasized. |
publishDate |
1998 |
dc.date.none.fl_str_mv |
1998-12-30 |
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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/2355 oai:ojs.www.actamedicaportuguesa.com:article/2355 |
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https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/2355 |
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oai:ojs.www.actamedicaportuguesa.com:article/2355 |
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por |
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por |
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https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/2355 https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/2355/1773 |
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info:eu-repo/semantics/openAccess |
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openAccess |
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application/pdf |
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. 11 No. 12 (1998): Dezembro; 1121-5 Acta Médica Portuguesa; Vol. 11 N.º 12 (1998): Dezembro; 1121-5 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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