Literature DB >> 16435209

First-trimester enzymatic and molecular prenatal diagnosis of mevalonic aciduria.

M O Rolland1, L Cuisset, J Le Bozec, N Guffon, C Vianey-Saban.   

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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Year:  2005        PMID： 16435209     DOI： 10.1007/s10545-005-0147-1

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


  3 in total

1.  Mevalonic aciduria--an inborn error of cholesterol and nonsterol isoprene biosynthesis.

Authors:  G Hoffmann; K M Gibson; I K Brandt; P I Bader; R S Wappner; L Sweetman
Journal:  N Engl J Med       Date:  1986-06-19       Impact factor: 91.245

2.  Mevalonate kinase assay using DEAE-cellulose column chromatography for first-trimester prenatal diagnosis and complementation analysis in mevalonic aciduria.

Authors:  G F Hoffmann; S U Brendel; S R Scharfschwerdt; Y S Shin; I M Speidel; K M Gibson
Journal:  J Inherit Metab Dis       Date:  1992       Impact factor: 4.982

3.  Mevalonate kinase deficiency in a child with cerebellar ataxia, hypotonia and mevalonic aciduria.

Authors:  K M Gibson; G Hoffmann; W L Nyhan; L Sweetman; R Berger; R le Coultre; G P Smit
Journal:  Eur J Pediatr       Date:  1988-12       Impact factor: 3.183
  3 in total
  1 in total

Review 1.  Antenatal manifestations of inborn errors of metabolism: biological diagnosis.

Authors:  Christine Vianey-Saban; Cécile Acquaviva; David Cheillan; Sophie Collardeau-Frachon; Laurent Guibaud; Cécile Pagan; Magali Pettazzoni; Monique Piraud; Antonin Lamazière; Roseline Froissart
Journal:  J Inherit Metab Dis       Date:  2016-07-08       Impact factor: 4.982
  1 in total

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