GM1 - type 1 glanglio sido sis: anatomo-clinic study of a case

Detalhes bibliográficos
Autor(a) principal: Barbosa-Coutinho,Ligia Maria
Data de Publicação: 1987
Outros Autores: Assis-Brasil,Beatriz Maria, Drachler,Maria de Lourdes, Rotta,Newra Tellechea, Giuliani,Roberto
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Arquivos de neuro-psiquiatria (Online)
Texto Completo: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X1987000100008
Resumo: The observation of generalized GM1 gangliosidosis type 1 (Norman-Landing disease) is reported. The case is typical, featuring all the main clinical and biological signs of the disease. Diagnosis was established by the demonstration of a severe deficit in beta-galactosidase activity in leucocytes, by the demonstration of oligosacarides in the urine, and by the histological examination after the fatal outcome before the age of two with severe respiratory distress.
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spelling GM1 - type 1 glanglio sido sis: anatomo-clinic study of a caseThe observation of generalized GM1 gangliosidosis type 1 (Norman-Landing disease) is reported. The case is typical, featuring all the main clinical and biological signs of the disease. Diagnosis was established by the demonstration of a severe deficit in beta-galactosidase activity in leucocytes, by the demonstration of oligosacarides in the urine, and by the histological examination after the fatal outcome before the age of two with severe respiratory distress.Academia Brasileira de Neurologia - ABNEURO1987-03-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X1987000100008Arquivos de Neuro-Psiquiatria v.45 n.1 1987reponame:Arquivos de neuro-psiquiatria (Online)instname:Academia Brasileira de Neurologiainstacron:ABNEURO10.1590/S0004-282X1987000100008info:eu-repo/semantics/openAccessBarbosa-Coutinho,Ligia MariaAssis-Brasil,Beatriz MariaDrachler,Maria de LourdesRotta,Newra TellecheaGiuliani,Robertoeng2011-06-22T00:00:00Zoai:scielo:S0004-282X1987000100008Revistahttp://www.scielo.br/anphttps://old.scielo.br/oai/scielo-oai.php||revista.arquivos@abneuro.org1678-42270004-282Xopendoar:2011-06-22T00:00Arquivos de neuro-psiquiatria (Online) - Academia Brasileira de Neurologiafalse
dc.title.none.fl_str_mv GM1 - type 1 glanglio sido sis: anatomo-clinic study of a case
title GM1 - type 1 glanglio sido sis: anatomo-clinic study of a case
spellingShingle GM1 - type 1 glanglio sido sis: anatomo-clinic study of a case
Barbosa-Coutinho,Ligia Maria
title_short GM1 - type 1 glanglio sido sis: anatomo-clinic study of a case
title_full GM1 - type 1 glanglio sido sis: anatomo-clinic study of a case
title_fullStr GM1 - type 1 glanglio sido sis: anatomo-clinic study of a case
title_full_unstemmed GM1 - type 1 glanglio sido sis: anatomo-clinic study of a case
title_sort GM1 - type 1 glanglio sido sis: anatomo-clinic study of a case
author Barbosa-Coutinho,Ligia Maria
author_facet Barbosa-Coutinho,Ligia Maria
Assis-Brasil,Beatriz Maria
Drachler,Maria de Lourdes
Rotta,Newra Tellechea
Giuliani,Roberto
author_role author
author2 Assis-Brasil,Beatriz Maria
Drachler,Maria de Lourdes
Rotta,Newra Tellechea
Giuliani,Roberto
author2_role author
author
author
author
dc.contributor.author.fl_str_mv Barbosa-Coutinho,Ligia Maria
Assis-Brasil,Beatriz Maria
Drachler,Maria de Lourdes
Rotta,Newra Tellechea
Giuliani,Roberto
description The observation of generalized GM1 gangliosidosis type 1 (Norman-Landing disease) is reported. The case is typical, featuring all the main clinical and biological signs of the disease. Diagnosis was established by the demonstration of a severe deficit in beta-galactosidase activity in leucocytes, by the demonstration of oligosacarides in the urine, and by the histological examination after the fatal outcome before the age of two with severe respiratory distress.
publishDate 1987
dc.date.none.fl_str_mv 1987-03-01
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X1987000100008
url http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X1987000100008
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 10.1590/S0004-282X1987000100008
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 Academia Brasileira de Neurologia - ABNEURO
publisher.none.fl_str_mv Academia Brasileira de Neurologia - ABNEURO
dc.source.none.fl_str_mv Arquivos de Neuro-Psiquiatria v.45 n.1 1987
reponame:Arquivos de neuro-psiquiatria (Online)
instname:Academia Brasileira de Neurologia
instacron:ABNEURO
instname_str Academia Brasileira de Neurologia
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institution ABNEURO
reponame_str Arquivos de neuro-psiquiatria (Online)
collection Arquivos de neuro-psiquiatria (Online)
repository.name.fl_str_mv Arquivos de neuro-psiquiatria (Online) - Academia Brasileira de Neurologia
repository.mail.fl_str_mv ||revista.arquivos@abneuro.org
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