Literature DB >> 3149702

A new case of isolated sulphite oxidase deficiency with rapid fatal outcome.

C Vianey-Liaud1, P Desjacques, J Gaulme, C Dorche, P Vanlieferinghen, P Dechelotte, P Divry.   

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Year:  1988        PMID： 3149702     DOI： 10.1007/bf01800433

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


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  4 in total

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

Authors:  P Desjacques; B Mousson; C Vianey-Liaud; R Boulieu; C Bory; P Baltassat; P Divry; M T Zabot; J Cotte; P Lagier
Journal:  J Inherit Metab Dis       Date:  1985       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.  2-Mercaptoethanesulfonate-cysteine disulfide excretion following the administration of 2-mercaptoethanesulfonate--a pitfall in the diagnosis of sulfite oxidase deficiency.

Authors:  M Duran; G Aarsen; R H Fokkens; N M Nibbering; B P Cats; P K de Bree; S K Wadman
Journal:  Clin Chim Acta       Date:  1981-03-19       Impact factor: 3.786

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

Authors:  B Mousson; P Desjacques; P Baltassat
Journal:  Enzyme       Date:  1983
  4 in total
  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.  Citrullinaemia and isolated sulphite oxidase deficiency in two siblings.

Authors:  L Vilarinho; J R Alves; C Dorche; B Chadefaux; P Parvy
Journal:  J Inherit Metab Dis       Date:  1994       Impact factor: 4.982

3.  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
  3 in total

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