Data/hora: 09/06/2024 18:17:47

Provedor de dados: | Genetics and Molecular Biology
País: | Brazil
Título: | Early infantile form of galactosialidosis in a female baby with a prenatal diagnosis of fetal ascites: First case in Brazil
Autores: | Santos,Cláudia Maria Carvalho dos; Correia,Patrícia Santana; Rosa,Antônio Abílio Santa; Vaniazzi,Elde; Coelho,Janice Carneiro; Burin,Maira Graeff; Giugliani,Roberto; Fensom,Anthony H.; Oliveira,Cesário Paulo Honório de; Oliveira,Maria Lúcia Costa  de; Llerena Jr.,Juan Clinton.
Data: | 1998-12-01
Ano: | 1998
Resumo: | We present the first case of an early infantile form of galactosialidosis among Brazilians. This very rare and severe lysosomal storage disease has only a dozen patients clearly diagnosed worldwide. Clinical, pathological and biochemical features were consistent with previously published findings. We detected the disorder in a 7-month-old female baby with prenatal diagnosis of ascites. Evolution of the storage disease was monitored through routine thin-layer chromatography (TLC) for urinary oligosaccharides as part of a screening program for inborn errors of metabolism (IEM) in high-risk children, carried out in Rio de Janeiro.
Tipo: | Info:eu-repo/semantics/article
Idioma: | Inglês
Identificador: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47571998000400005
Editor: | Sociedade Brasileira de Genética
Relação: | 10.1590/S1415-47571998000400005
Formato: | text/html
Fonte: | Genetics and Molecular Biology  v.21 n.4 1998
Fonte: | info:eu-repo/semantics/openAccess