%0 Journal Article
%T Early infantile form of galactosialidosis in a female baby with a prenatal diagnosis of fetal ascites: First case in Brazil
%A Santos
%A Cl¨¢udia Maria Carvalho dos
%A Correia
%A Patr¨ªcia Santana
%A Rosa
%A Ant£¿nio Ab¨ªlio Santa
%A Vaniazzi
%A Elde
%A Coelho
%A Janice Carneiro
%A Burin
%A Maira Graeff
%A Giugliani
%A Roberto
%A Fensom
%A Anthony H.
%A Oliveira
%A Ces¨¢rio Paulo Hon¨®rio de
%A Oliveira
%A Maria L¨²cia Costa de
%A Llerena Jr.
%A Juan Clinton
%J Genetics and Molecular Biology
%D 1998
%I Sociedade Brasileira de Gen¨¦tica
%R 10.1590/S1415-47571998000400005
%X 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.
%U http://www.scielo.br/scielo.php?script=sci_abstract&pid=S1415-47571998000400005&lng=en&nrm=iso&tlng=en