Glucose-6-phosphate dehydrogenase deficiency in 2 girls.

Detalhes bibliográficos
Autor(a) principal: Costa, E
Data de Publicação: 1999
Outros Autores: Cabeda, J M, Abreu, M E, Silva, A, Morais, L, Alexandrino, A M, Justiça, B, Barbot, J
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/2155
Resumo: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common erythrocyte enzymopathy, affecting over 400 million people worldwide. Portugal is a low prevalence country, but immigrants from endemic regions are common, particularly in the south of the country. In the present study, we report the laboratory findings observed in two black proband children with low G6PD enzyme activity (23 and 18%). The study also included their first-degree relatives. Both biochemical parameters (enzyme activity, electrophoretic mobility and cytochemical test) and genetic determinations (mutation and haplotype characterisation) were performed.
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spelling Glucose-6-phosphate dehydrogenase deficiency in 2 girls.Défice de glicose-6-fosfato desidrogenase em duas crianças do sexo feminino.Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common erythrocyte enzymopathy, affecting over 400 million people worldwide. Portugal is a low prevalence country, but immigrants from endemic regions are common, particularly in the south of the country. In the present study, we report the laboratory findings observed in two black proband children with low G6PD enzyme activity (23 and 18%). The study also included their first-degree relatives. Both biochemical parameters (enzyme activity, electrophoretic mobility and cytochemical test) and genetic determinations (mutation and haplotype characterisation) were performed.Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common erythrocyte enzymopathy, affecting over 400 million people worldwide. Portugal is a low prevalence country, but immigrants from endemic regions are common, particularly in the south of the country. In the present study, we report the laboratory findings observed in two black proband children with low G6PD enzyme activity (23 and 18%). The study also included their first-degree relatives. Both biochemical parameters (enzyme activity, electrophoretic mobility and cytochemical test) and genetic determinations (mutation and haplotype characterisation) were performed.Ordem dos Médicos1999-11-30info:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttps://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/2155oai:ojs.www.actamedicaportuguesa.com:article/2155Acta Médica Portuguesa; Vol. 12 No. 7-11 (1999): Julho-Novembro; 283-6Acta Médica Portuguesa; Vol. 12 N.º 7-11 (1999): Julho-Novembro; 283-61646-07580870-399Xreponame: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/2155https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/2155/1597Costa, ECabeda, J MAbreu, M ESilva, AMorais, LAlexandrino, A MJustiça, BBarbot, Jinfo:eu-repo/semantics/openAccess2022-12-20T10:59:54Zoai:ojs.www.actamedicaportuguesa.com:article/2155Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T16:17:33.986761Repositório 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 Glucose-6-phosphate dehydrogenase deficiency in 2 girls.
Défice de glicose-6-fosfato desidrogenase em duas crianças do sexo feminino.
title Glucose-6-phosphate dehydrogenase deficiency in 2 girls.
spellingShingle Glucose-6-phosphate dehydrogenase deficiency in 2 girls.
Costa, E
title_short Glucose-6-phosphate dehydrogenase deficiency in 2 girls.
title_full Glucose-6-phosphate dehydrogenase deficiency in 2 girls.
title_fullStr Glucose-6-phosphate dehydrogenase deficiency in 2 girls.
title_full_unstemmed Glucose-6-phosphate dehydrogenase deficiency in 2 girls.
title_sort Glucose-6-phosphate dehydrogenase deficiency in 2 girls.
author Costa, E
author_facet Costa, E
Cabeda, J M
Abreu, M E
Silva, A
Morais, L
Alexandrino, A M
Justiça, B
Barbot, J
author_role author
author2 Cabeda, J M
Abreu, M E
Silva, A
Morais, L
Alexandrino, A M
Justiça, B
Barbot, J
author2_role author
author
author
author
author
author
author
dc.contributor.author.fl_str_mv Costa, E
Cabeda, J M
Abreu, M E
Silva, A
Morais, L
Alexandrino, A M
Justiça, B
Barbot, J
description Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common erythrocyte enzymopathy, affecting over 400 million people worldwide. Portugal is a low prevalence country, but immigrants from endemic regions are common, particularly in the south of the country. In the present study, we report the laboratory findings observed in two black proband children with low G6PD enzyme activity (23 and 18%). The study also included their first-degree relatives. Both biochemical parameters (enzyme activity, electrophoretic mobility and cytochemical test) and genetic determinations (mutation and haplotype characterisation) were performed.
publishDate 1999
dc.date.none.fl_str_mv 1999-11-30
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dc.type.driver.fl_str_mv info:eu-repo/semantics/article
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identifier_str_mv oai:ojs.www.actamedicaportuguesa.com:article/2155
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/2155
https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/2155/1597
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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. 12 No. 7-11 (1999): Julho-Novembro; 283-6
Acta Médica Portuguesa; Vol. 12 N.º 7-11 (1999): Julho-Novembro; 283-6
1646-0758
0870-399X
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