Literature DB >> 6139694

Antenatal diagnosis of combined xanthine and sulphite oxidase deficiencies.

H Ogier, S K Wadman, J L Johnson, J M Saudubray, M Duran, J Boue, A Munnich, C Charpentier.   

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Year:  1983        PMID： 6139694     DOI： 10.1016/s0140-6736(83)91118-2

Source DB:  PubMed          Journal:  Lancet        ISSN： 0140-6736            Impact factor:   79.321


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  4 in total

1.  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

2.  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

Review 3.  Prenatal diagnosis of inborn errors of metabolism with renal manifestations.

Authors:  E Harms
Journal:  Pediatr Nephrol       Date:  1987-07       Impact factor: 3.714

4.  Molybdenum cofactor biosynthesis in humans. Identification of two complementation groups of cofactor-deficient patients and preliminary characterization of a diffusible molybdopterin precursor.

Authors:  J L Johnson; M M Wuebbens; R Mandell; V E Shih
Journal:  J Clin Invest       Date:  1989-03       Impact factor: 14.808
  4 in total

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