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Case Reports
. 2005;28(6):1141-2.
doi: 10.1007/s10545-005-0147-1.

First-trimester enzymatic and molecular prenatal diagnosis of mevalonic aciduria

M O Rolland  1 , L Cuisset, J Le Bozec, N Guffon, C Vianey-Saban
Affiliations
Case Reports

First-trimester enzymatic and molecular prenatal diagnosis of mevalonic aciduria

M O Rolland et al. J Inherit Metab Dis. 2005.

Abstract

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 diagnosed.

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References

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    1. Eur J Pediatr. 1988 Dec;148(3):250-2 - PubMed
    1. N Engl J Med. 1986 Jun 19;314(25):1610-4 - PubMed

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