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

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

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. W...

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Bibliographic Details
Main Authors: 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
Format: Article
Language:English
Published: Sociedade Brasileira de Genética 1998-01-01
Series:Genetics and Molecular Biology
Online Access:http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47571998000400005

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http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47571998000400005

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