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Prenatal diagnosis and confirmation of infantile sialic acid storage disease.
Prenat Diagn ; 6(6): 437-46, 1986.
Article em En | MEDLINE | ID: mdl-3809113
ABSTRACT
Amniocentesis was performed in a pregnancy at risk for infantile sialic acid storage disease. Greatly elevated levels of free sialic acid were found in cell-free amniotic fluid as well as in cultured amniotic cells from the fetus at risk. After incubation of the cultured amniocytes with fetuin labelled in its sialic acid moiety, pulse and chase experiments respectively showed accumulation and impaired release of TCA-soluble radioactive material in the amniotic cells at risk. These data thus clearly indicated that the fetus was affected. After pregnancy termination, ultrastructural studies of fetal organs and placenta showed a generalized storage picture characterized by clear membrane-bound inclusions. The diagnosis was further confirmed by the finding of greatly increased amounts of free sialic acid in fetal organs and cultured fibroblasts.
Assuntos
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Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Ácidos Siálicos / Erros Inatos do Metabolismo dos Carboidratos / Amniocentese Tipo de estudo: Diagnostic_studies Limite: Female / Humans / Pregnancy Idioma: En Revista: Prenat Diagn Ano de publicação: 1986 Tipo de documento: Article
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Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Ácidos Siálicos / Erros Inatos do Metabolismo dos Carboidratos / Amniocentese Tipo de estudo: Diagnostic_studies Limite: Female / Humans / Pregnancy Idioma: En Revista: Prenat Diagn Ano de publicação: 1986 Tipo de documento: Article