GM1 - type 1 glanglio sido sis: anatomo-clinic study of a case
Autor(a) principal: | |
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Data de Publicação: | 1987 |
Outros Autores: | , , , |
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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Arquivos de neuro-psiquiatria (Online) |
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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 |
instacron_str |
ABNEURO |
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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1754212746294984704 |