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| 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. |
| 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 |
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| Ano: 1998 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47571998000400005 |
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