Krabbe disease: the importance of early diagnosis for prognosis

Detalhes bibliográficos
Autor(a) principal: Sano,Tatiana Suemi
Data de Publicação: 2012
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Einstein (São Paulo)
Texto Completo: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1679-45082012000200019
Resumo: Krabbe disease (globoid cell leukodystrophy) is an inherited recessive autosomal leukodystrophy caused by deficiency of the enzyme galactocerebrosidase. The lack of this enzyme leads to the build-up of galactolipids that will promote the death of oligodendrocytes and the demyelination of the central and peripheral nervous systems. There are two clinical forms: early onset and late onset. This article reports a case of late onset Krabbe disease and discusses the importance of early diagnosis for its prognosis.
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spelling Krabbe disease: the importance of early diagnosis for prognosisLeukodystrophy, globoid cellGalactosylceramidasePsychosineGalactolipidsEarly diagnosisCase reportsKrabbe disease (globoid cell leukodystrophy) is an inherited recessive autosomal leukodystrophy caused by deficiency of the enzyme galactocerebrosidase. The lack of this enzyme leads to the build-up of galactolipids that will promote the death of oligodendrocytes and the demyelination of the central and peripheral nervous systems. There are two clinical forms: early onset and late onset. This article reports a case of late onset Krabbe disease and discusses the importance of early diagnosis for its prognosis.Instituto Israelita de Ensino e Pesquisa Albert Einstein2012-06-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S1679-45082012000200019einstein (São Paulo) v.10 n.2 2012reponame:Einstein (São Paulo)instname:Instituto Israelita de Ensino e Pesquisa Albert Einstein (IIEPAE)instacron:IIEPAE10.1590/S1679-45082012000200019info:eu-repo/semantics/openAccessSano,Tatiana Suemieng2012-09-20T00:00:00Zoai:scielo:S1679-45082012000200019Revistahttps://journal.einstein.br/pt-br/ONGhttps://old.scielo.br/oai/scielo-oai.php||revista@einstein.br2317-63851679-4508opendoar:2012-09-20T00:00Einstein (São Paulo) - Instituto Israelita de Ensino e Pesquisa Albert Einstein (IIEPAE)false
dc.title.none.fl_str_mv Krabbe disease: the importance of early diagnosis for prognosis
title Krabbe disease: the importance of early diagnosis for prognosis
spellingShingle Krabbe disease: the importance of early diagnosis for prognosis
Sano,Tatiana Suemi
Leukodystrophy, globoid cell
Galactosylceramidase
Psychosine
Galactolipids
Early diagnosis
Case reports
title_short Krabbe disease: the importance of early diagnosis for prognosis
title_full Krabbe disease: the importance of early diagnosis for prognosis
title_fullStr Krabbe disease: the importance of early diagnosis for prognosis
title_full_unstemmed Krabbe disease: the importance of early diagnosis for prognosis
title_sort Krabbe disease: the importance of early diagnosis for prognosis
author Sano,Tatiana Suemi
author_facet Sano,Tatiana Suemi
author_role author
dc.contributor.author.fl_str_mv Sano,Tatiana Suemi
dc.subject.por.fl_str_mv Leukodystrophy, globoid cell
Galactosylceramidase
Psychosine
Galactolipids
Early diagnosis
Case reports
topic Leukodystrophy, globoid cell
Galactosylceramidase
Psychosine
Galactolipids
Early diagnosis
Case reports
description Krabbe disease (globoid cell leukodystrophy) is an inherited recessive autosomal leukodystrophy caused by deficiency of the enzyme galactocerebrosidase. The lack of this enzyme leads to the build-up of galactolipids that will promote the death of oligodendrocytes and the demyelination of the central and peripheral nervous systems. There are two clinical forms: early onset and late onset. This article reports a case of late onset Krabbe disease and discusses the importance of early diagnosis for its prognosis.
publishDate 2012
dc.date.none.fl_str_mv 2012-06-01
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=S1679-45082012000200019
url http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1679-45082012000200019
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 10.1590/S1679-45082012000200019
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 Instituto Israelita de Ensino e Pesquisa Albert Einstein
publisher.none.fl_str_mv Instituto Israelita de Ensino e Pesquisa Albert Einstein
dc.source.none.fl_str_mv einstein (São Paulo) v.10 n.2 2012
reponame:Einstein (São Paulo)
instname:Instituto Israelita de Ensino e Pesquisa Albert Einstein (IIEPAE)
instacron:IIEPAE
instname_str Instituto Israelita de Ensino e Pesquisa Albert Einstein (IIEPAE)
instacron_str IIEPAE
institution IIEPAE
reponame_str Einstein (São Paulo)
collection Einstein (São Paulo)
repository.name.fl_str_mv Einstein (São Paulo) - Instituto Israelita de Ensino e Pesquisa Albert Einstein (IIEPAE)
repository.mail.fl_str_mv ||revista@einstein.br
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