Prenatal diagnosis of Niemann-Pick type C disease: Current strategy from an experience of 37 pregnancies at risk

Thirty-seven pregnancies at risk for Niemann-Pick type C disease were monitored by study of cultured amniotic fluid cells (8 cases) or chorionic villus cells (29 cases) in 23 couples over the period 1984–91. An early protocol combined determination of sphingomyelinase activity with electron microsco...

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Detalhes bibliográficos
Main Authors: Vanier, Marie T., Rodriguez-Lafrasse, Claire, Rousson, Robert, Mandon, Ginette, Boué, Joëlle, Choiset, Agnès, Peyrat, Marie-France, Dumontel, Christiane, Juge, Marie-Christine, Pentchev, Peter G., Revol, André, Louisot, Pierre
Formato: Artigo
Idioma:Inglês
Publicado em: 1992
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Original Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1682867/
https://ncbi.nlm.nih.gov/pubmed/1609791
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