| Registro completo |
| Provedor de dados: |
Genet. Mol. Biol.
|
| 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
|
| Direitos: |
info:eu-repo/semantics/openAccess
|
