Literature DB >> 2220930

Antenatal diagnosis of molybdenum cofactor deficiency.

R G Gray1, A Green, S N Basu, G Constantine, R G Condie, C Dorche, C Vianey-Liaud, P Desjacques.   

Abstract

Analysis of uncultured chorionic villus material from a woman at risk of fetus with sulfite oxidase deficiency revealed a deficiency of sulfite oxidase. This was confirmed on termination of the pregnancy.

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Year:  1990        PMID： 2220930     DOI： 10.1016/0002-9378(90)90691-y

Source DB:  PubMed          Journal:  Am J Obstet Gynecol        ISSN： 0002-9378            Impact factor:   8.661


  3 in total

1.  Dietary therapy in two patients with a mild form of sulphite oxidase deficiency. Evidence for clinical and biological improvement.

Authors:  G Touati; E Rusthoven; E Depondt; C Dorche; M Duran; B Heron; D Rabier; M Russo; J M Saudubray
Journal:  J Inherit Metab Dis       Date:  2000-02       Impact factor: 4.982

2.  Molybdenum cofactor deficiency in two siblings: diagnostic difficulties.

Authors:  L K Hansen; K Wulff; C Dorche; E Christensen
Journal:  Eur J Pediatr       Date:  1993-08       Impact factor: 3.183

3.  Prenatal diagnosis of molybdenum cofactor deficiency by assay of sulphite oxidase activity in chorionic villus samples.

Authors:  J L Johnson; K V Rajagopalan; J T Lanman; R B Schutgens; A H van Gennip; P Sorensen; D A Applegarth
Journal:  J Inherit Metab Dis       Date:  1991       Impact factor: 4.982
  3 in total

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