Pompe's disease or type IIa glycogenosis

Detalhes bibliográficos
Autor(a) principal: Jacob,José Luiz Balthazar
Data de Publicação: 1999
Outros Autores: Leandro,Rosiene Lisboa, Parro Jr,Adelino
Tipo de documento: Relatório
Idioma: eng
Título da fonte: Arquivos Brasileiros de Cardiologia (Online)
Texto Completo: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0066-782X1999001100004
Resumo: This is the report of a five-month-old child presenting clinical evidence of Pompe's disease: severe hypotonicity, hyporeflexia and congestive heart failure. The ECG showed a short PR interval, the chest radiography disclosed marked cardiomegaly, and the echocardiogram revealed marked left ventricular hypertrophy - the most typical finding of this disease. A skeletal muscle biopsy led to final diagnosis, because in the histopathologic study marked increased glycogen accumulation was evident. Death occurred two months after symptom onset.
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spelling Pompe's disease or type IIa glycogenosisThis is the report of a five-month-old child presenting clinical evidence of Pompe's disease: severe hypotonicity, hyporeflexia and congestive heart failure. The ECG showed a short PR interval, the chest radiography disclosed marked cardiomegaly, and the echocardiogram revealed marked left ventricular hypertrophy - the most typical finding of this disease. A skeletal muscle biopsy led to final diagnosis, because in the histopathologic study marked increased glycogen accumulation was evident. Death occurred two months after symptom onset.Sociedade Brasileira de Cardiologia - SBC1999-11-01info:eu-repo/semantics/reportinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S0066-782X1999001100004Arquivos Brasileiros de Cardiologia v.73 n.5 1999reponame:Arquivos Brasileiros de Cardiologia (Online)instname:Sociedade Brasileira de Cardiologia (SBC)instacron:SBC10.1590/S0066-782X1999001100004info:eu-repo/semantics/openAccessJacob,José Luiz BalthazarLeandro,Rosiene LisboaParro Jr,Adelinoeng2002-01-08T00:00:00Zoai:scielo:S0066-782X1999001100004Revistahttp://www.arquivosonline.com.br/https://old.scielo.br/oai/scielo-oai.php||arquivos@cardiol.br1678-41700066-782Xopendoar:2002-01-08T00:00Arquivos Brasileiros de Cardiologia (Online) - Sociedade Brasileira de Cardiologia (SBC)false
dc.title.none.fl_str_mv Pompe's disease or type IIa glycogenosis
title Pompe's disease or type IIa glycogenosis
spellingShingle Pompe's disease or type IIa glycogenosis
Jacob,José Luiz Balthazar
title_short Pompe's disease or type IIa glycogenosis
title_full Pompe's disease or type IIa glycogenosis
title_fullStr Pompe's disease or type IIa glycogenosis
title_full_unstemmed Pompe's disease or type IIa glycogenosis
title_sort Pompe's disease or type IIa glycogenosis
author Jacob,José Luiz Balthazar
author_facet Jacob,José Luiz Balthazar
Leandro,Rosiene Lisboa
Parro Jr,Adelino
author_role author
author2 Leandro,Rosiene Lisboa
Parro Jr,Adelino
author2_role author
author
dc.contributor.author.fl_str_mv Jacob,José Luiz Balthazar
Leandro,Rosiene Lisboa
Parro Jr,Adelino
description This is the report of a five-month-old child presenting clinical evidence of Pompe's disease: severe hypotonicity, hyporeflexia and congestive heart failure. The ECG showed a short PR interval, the chest radiography disclosed marked cardiomegaly, and the echocardiogram revealed marked left ventricular hypertrophy - the most typical finding of this disease. A skeletal muscle biopsy led to final diagnosis, because in the histopathologic study marked increased glycogen accumulation was evident. Death occurred two months after symptom onset.
publishDate 1999
dc.date.none.fl_str_mv 1999-11-01
dc.type.driver.fl_str_mv info:eu-repo/semantics/report
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
format report
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0066-782X1999001100004
url http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0066-782X1999001100004
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 10.1590/S0066-782X1999001100004
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv text/html
dc.publisher.none.fl_str_mv Sociedade Brasileira de Cardiologia - SBC
publisher.none.fl_str_mv Sociedade Brasileira de Cardiologia - SBC
dc.source.none.fl_str_mv Arquivos Brasileiros de Cardiologia v.73 n.5 1999
reponame:Arquivos Brasileiros de Cardiologia (Online)
instname:Sociedade Brasileira de Cardiologia (SBC)
instacron:SBC
instname_str Sociedade Brasileira de Cardiologia (SBC)
instacron_str SBC
institution SBC
reponame_str Arquivos Brasileiros de Cardiologia (Online)
collection Arquivos Brasileiros de Cardiologia (Online)
repository.name.fl_str_mv Arquivos Brasileiros de Cardiologia (Online) - Sociedade Brasileira de Cardiologia (SBC)
repository.mail.fl_str_mv ||arquivos@cardiol.br
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