Literature DB >> 3930856

Combined deficiency of xanthine oxidase and sulphite oxidase: diagnosis of a new case followed by an antenatal diagnosis.

P Desjacques, B Mousson, C Vianey-Liaud, R Boulieu, C Bory, P Baltassat, P Divry, M T Zabot, J Cotte, P Lagier.   

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Year:  1985        PMID： 3930856     DOI： 10.1007/bf01811486

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


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  7 in total

1.  Combined deficiency of xanthine oxidase and sulphite oxidase: a defect of molybdenum metabolism or transport?

Authors:  M Duran; F A Beemer; C van de Heiden; J Korteland; P K de Bree; M Brink; S K Wadman; I Lombeck
Journal:  J Inherit Metab Dis       Date:  1978       Impact factor: 4.982

2.  Sulfite oxidase deficiency. Biochemical and clinical investigations of a hereditary metabolic disorder in sulfur metabolism.

Authors:  V E Shih; I F Abroms; J L Johnson; M Carney; R Mandell; R M Robb; J P Cloherty; K V Rajagopalan
Journal:  N Engl J Med       Date:  1977-11-10       Impact factor: 91.245

3.  Inborn errors of molybdenum metabolism: combined deficiencies of sulfite oxidase and xanthine dehydrogenase in a patient lacking the molybdenum cofactor.

Authors:  J L Johnson; W R Waud; K V Rajagopalan; M Duran; F A Beemer; S K Wadman
Journal:  Proc Natl Acad Sci U S A       Date:  1980-06       Impact factor: 11.205

4.  Purification and properties of sulfite oxidase from human liver.

Authors:  J L Johnson; K V Rajagopalan
Journal:  J Clin Invest       Date:  1976-09       Impact factor: 14.808

5.  Absence of hepatic molybdenum cofactor: an inborn error of metabolism leading to a combined deficiency of sulphite oxidase and xanthine dehydrogenase.

Authors:  S K Wadman; M Duran; F A Beemer; B P Cats; J L Johnson; K V Rajagopalan; J M Saudubray; H Ogier; C Charpentier; R Berger
Journal:  J Inherit Metab Dis       Date:  1983       Impact factor: 4.982

6.  Measurement of xanthine oxidase activity in some human tissues. An optimized method.

Authors:  B Mousson; P Desjacques; P Baltassat
Journal:  Enzyme       Date:  1983

7.  High-performance liquid chromatographic determination of hypoxanthine and xanthine in biological fluids.

Authors:  R Boulieu; C Bory; P Baltassat; C Gonnet
Journal:  J Chromatogr       Date:  1982-12-10
  7 in total
  5 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.  A new case of isolated sulphite oxidase deficiency with rapid fatal outcome.

Authors:  C Vianey-Liaud; P Desjacques; J Gaulme; C Dorche; P Vanlieferinghen; P Dechelotte; P Divry
Journal:  J Inherit Metab Dis       Date:  1988       Impact factor: 4.982

3.  Human molybdopterin synthase gene: genomic structure and mutations in molybdenum cofactor deficiency type B.

Authors:  J Reiss; C Dorche; B Stallmeyer; R R Mendel; N Cohen; M T Zabot
Journal:  Am J Hum Genet       Date:  1999-03       Impact factor: 11.025

4.  Infantile isolated sulphite oxidase deficiency: report of a case with negative sulphite test and normal sulphate excretion.

Authors:  J M van der Klei-van Moorsel; L M Smit; M Brockstedt; C Jakobs; C Dorche; M Duran
Journal:  Eur J Pediatr       Date:  1991-01       Impact factor: 3.183

5.  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
  5 in total

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