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2. A new case of isolated sulphite oxidase deficiency with rapid fatal outcome. Vianey-Liaud C; Desjacques P; Gaulme J; Dorche C; Vanlieferinghen P; Dechelotte P; Divry P J Inherit Metab Dis; 1988; 11(4):425-6. PubMed ID: 3149702 [No Abstract] [Full Text] [Related]
3. Infantile isolated sulphite oxidase deficiency: report of a case with negative sulphite test and normal sulphate excretion. van der Klei-van Moorsel JM; Smit LM; Brockstedt M; Jakobs C; Dorche C; Duran M Eur J Pediatr; 1991 Jan; 150(3):196-7. PubMed ID: 2044591 [TBL] [Abstract][Full Text] [Related]
4. An HPLC assay for detection of elevated urinary S-sulphocysteine, a metabolic marker of sulphite oxidase deficiency. Johnson JL; Rajagopalan KV J Inherit Metab Dis; 1995; 18(1):40-7. PubMed ID: 7623441 [TBL] [Abstract][Full Text] [Related]
5. Combined xanthine and sulphite oxidase defect due to a deficiency of molybdenum cofactor. Roesel RA; Bowyer F; Blankenship PR; Hommes FA J Inherit Metab Dis; 1986; 9(4):343-7. PubMed ID: 3104671 [TBL] [Abstract][Full Text] [Related]
6. [Combined sulfite and xanthine oxidase deficiency due to an anomaly in the metabolism of molybdenum cofactor]. Lagier P; Tessonnier JM; Collet S; Lando A; Divry P; Vianet-Liaud C; Desjacques P; Bimar J Ann Pediatr (Paris); 1986 Nov; 33(9):825-8. PubMed ID: 3800248 [No Abstract] [Full Text] [Related]
7. [Sulfite and xanthine oxidase deficiency: a diagnosis based on 2 simple tests]. Hervé F; Berger JP; Soulier J Ann Pediatr (Paris); 1986 Nov; 33(9):857. PubMed ID: 3800254 [No Abstract] [Full Text] [Related]
8. Combined deficiency of xanthine oxidase and sulphite oxidase: diagnosis of a new case followed by an antenatal diagnosis. Desjacques P; Mousson B; Vianey-Liaud C; Boulieu R; Bory C; Baltassat P; Divry P; Zabot MT; Cotte J; Lagier P J Inherit Metab Dis; 1985; 8 Suppl 2():117-8. PubMed ID: 3930856 [No Abstract] [Full Text] [Related]
10. 2-Mercaptoethanesulfonate-cysteine disulfide excretion following the administration of 2-mercaptoethanesulfonate--a pitfall in the diagnosis of sulfite oxidase deficiency. Duran M; Aarsen G; Fokkens RH; Nibbering NM; Cats BP; de Bree PK; Wadman SK Clin Chim Acta; 1981 Mar; 111(1):47-53. PubMed ID: 6784974 [TBL] [Abstract][Full Text] [Related]
11. A review of the clinical presentation and laboratory findings in two uncommon hereditary disorders of sulfur amino acid metabolism, beta-mercaptolactate cysteine disulfideuria and sulfite oxidase deficiency. Crawhall JC Clin Biochem; 1985 Jun; 18(3):139-42. PubMed ID: 3888441 [TBL] [Abstract][Full Text] [Related]
12. Combined deficiency of xanthine oxidase and sulphite oxidase: a defect of molybdenum metabolism or transport? Duran M; Beemer FA; van de Heiden C; Korteland J; de Bree PK; Brink M; Wadman SK; Lombeck I J Inherit Metab Dis; 1978; 1(4):175-8. PubMed ID: 117254 [TBL] [Abstract][Full Text] [Related]
13. Antenatal diagnosis of combined xanthine and sulphite oxidase deficiencies. Ogier H; Wadman SK; Johnson JL; Saudubray JM; Duran M; Boue J; Munnich A; Charpentier C Lancet; 1983 Dec; 2(8363):1363-4. PubMed ID: 6139694 [No Abstract] [Full Text] [Related]
14. Combined deficiency of xanthine oxidase and sulfite oxidase; ophthalmological findings in a 3-week-old girl. Beemer FA; Delleman JW Metab Pediatr Ophthalmol; 1980; 4(1):49-52. PubMed ID: 6969337 [No Abstract] [Full Text] [Related]
15. Urinary AASA excretion is elevated in patients with molybdenum cofactor deficiency and isolated sulphite oxidase deficiency. Mills PB; Footitt EJ; Ceyhan S; Waters PJ; Jakobs C; Clayton PT; Struys EA J Inherit Metab Dis; 2012 Nov; 35(6):1031-6. PubMed ID: 22403017 [TBL] [Abstract][Full Text] [Related]
17. Neuropathological findings in a case of combined deficiency of sulphite oxidase and xanthine dehydrogenase. Barth PG; Beemer FA; Cats BP; Duran M; Wadman SK Virchows Arch A Pathol Anat Histopathol; 1985; 408(1):105-6. PubMed ID: 3933168 [No Abstract] [Full Text] [Related]
19. Report on a new patient with combined deficiencies of sulphite oxidase and xanthine dehydrogenase due to molybdenum cofactor deficiency. Endres W; Shin YS; Günther R; Ibel H; Duran M; Wadman SK Eur J Pediatr; 1988 Dec; 148(3):246-9. PubMed ID: 3215199 [TBL] [Abstract][Full Text] [Related]
20. Anatomo-pathological findings in a case of combined deficiency of sulphite oxidase and xanthine oxidase with a defect of molybdenum cofactor. Roth A; Nogues C; Monnet JP; Ogier H; Saudubray JM Virchows Arch A Pathol Anat Histopathol; 1985; 405(3):379-86. PubMed ID: 3919502 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]