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    First-trimester enzymatic and molecular prenatal diagnosis of mevalonic aciduria

    Prenatal diagnosis was offered to a family at risk of mevalonic aciduria. A chorionic villus sample was obtained and both mevalonate kinase activity and mutation analysis were done. An affected fetus was diagn...

    M. O. Rolland, L. Cuisset, J. Le Bozec, N. Guffon… in Journal of Inherited Metabolic Disease (2005)