Early infantile form of galactosialidosis in a female baby with a prenatal diagnosis of fetal ascites - first case in Brazil

dc.creatorSantos, Cláudia Maria Carvalho dos
dc.creatorCorreia, Patrícia Santana
dc.creatorRosa, Antônio Abílio Santa
dc.creatorVanazzi, Elide
dc.creatorCoelho, Janice Carneiro
dc.creatorBurin, Maira G.
dc.creatorGiugliani, Roberto
dc.creatorFensom, Anthony H.
dc.creatorOliveira, Cesário Paulo Honório de
dc.creatorOliveira, Maria Lúcia Costa de
dc.creatorLlerena Junior, Juan Clinton
dc.date.accessioned2013-02-22T17:00:26Z
dc.date.accessioned2023-09-05T12:03:34Z
dc.date.available2013-02-22T17:00:26Z
dc.date.available2023-09-05T12:03:34Z
dc.date.created2013-02-22T17:00:26Z
dc.date.issued1998
dc.identifierSANTOS, Cláudia Maria Carvalho dos et al. Early infantile form of galactosialidosis in a female baby with a prenatal diagnosis of fetal ascites - first case in Brazil. Genet. mol. biol., Ribeirão Preto, v. 21, n. 4, dec. 1998.
dc.identifierhttps://www.arca.fiocruz.br/handle/icict/6328
dc.identifier10.1590/S1415-47571998000400005
dc.identifier.urihttps://repositorioslatinoamericanos.uchile.cl/handle/2250/8648407
dc.description.abstractApresentamos o primeiro caso de galactosialidose do tipo infantil precoce identificado entre a população brasileira, uma grave e rara doença de depósito lisossomal, com apenas 12 casos claramente descritos mundialmente. Estudos clínicos, patológicos e bioquímicos realizados foram consistentes com os dados já publicados na literatura científica. Detectamos a doença em uma menina de 7 meses de idade, com diagnóstico de ascite no período pré-natal e evolução compatível com doença de depósito, através da cromatografia em camada fina para oligossacarídeos, que é parte integrante do programa de triagem para erros inatos do metabolismo (EIM) em crianças de alto risco, realizado no Estado do Rio de Janeiro.
dc.languageeng
dc.publisherSociedade Brasileira de Genética
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dc.rightsopen access
dc.titleEarly infantile form of galactosialidosis in a female baby with a prenatal diagnosis of fetal ascites - first case in Brazil
dc.typeArticle


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