140 related articles for article (PubMed ID: 15025809)
1. New approaches towards laboratory diagnosis of isolated sulphite oxidase deficiency.
Sass JO; Nakanishi T; Sato T; Shimizu A
Ann Clin Biochem; 2004 Mar; 41(Pt 2):157-9. PubMed ID: 15025809
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. Absence of hepatic molybdenum cofactor: an inborn error of metabolism leading to a combined deficiency of sulphite oxidase and xanthine dehydrogenase.
Wadman SK; Duran M; Beemer FA; Cats BP; Johnson JL; Rajagopalan KV; Saudubray JM; Ogier H; Charpentier C; Berger R
J Inherit Metab Dis; 1983; 6 Suppl 1():78-83. PubMed ID: 6413778
[TBL] [Abstract][Full Text] [Related]
4. Molybdenum-cofactor deficiency: an easily missed cause of neonatal convulsions.
Slot HM; Overweg-Plandsoen WC; Bakker HD; Abeling NG; Tamminga P; Barth PG; Van Gennip AH
Neuropediatrics; 1993 Jun; 24(3):139-42. PubMed ID: 8355818
[TBL] [Abstract][Full Text] [Related]
5. Prenatal diagnosis and carrier detection for molybdenum cofactor deficiency type A in northern Israel using polymorphic DNA markers.
Shalata A; Mandel H; Dorche C; Zabot MT; Shalev S; Hugeirat Y; Arieh D; Ronit Z; Reiss J; Anbinder Y; Cohen N
Prenat Diagn; 2000 Jan; 20(1):7-11. PubMed ID: 10701843
[TBL] [Abstract][Full Text] [Related]
6. The peak height ratio of S-sulfonated transthyretin and other oxidized isoforms as a marker for molybdenum cofactor deficiency, measured by electrospray ionization mass spectrometry.
Kishikawa M; Sass JO; Sakura N; Nakanishi T; Shimizu A; Yoshioka M
Biochim Biophys Acta; 2002 Nov; 1588(2):135-8. PubMed ID: 12385777
[TBL] [Abstract][Full Text] [Related]
7. Sulphite oxidase deficiency--a report of two siblings.
Goh A; Lim KW
Singapore Med J; 1997 Sep; 38(9):391-4. PubMed ID: 9407766
[TBL] [Abstract][Full Text] [Related]
8. Isolated sulfite oxidase deficiency.
Rupar CA; Gillett J; Gordon BA; Ramsay DA; Johnson JL; Garrett RM; Rajagopalan KV; Jung JH; Bacheyie GS; Sellers AR
Neuropediatrics; 1996 Dec; 27(6):299-304. PubMed ID: 9050047
[TBL] [Abstract][Full Text] [Related]
9. Prenatal diagnosis of molybdenum cofactor deficiency by assay of sulphite oxidase activity in chorionic villus samples.
Johnson JL; Rajagopalan KV; Lanman JT; Schutgens RB; van Gennip AH; Sorensen P; Applegarth DA
J Inherit Metab Dis; 1991; 14(6):932-7. PubMed ID: 1779653
[TBL] [Abstract][Full Text] [Related]
10. Inborn errors of molybdenum metabolism: combined deficiencies of sulfite oxidase and xanthine dehydrogenase in a patient lacking the molybdenum cofactor.
Johnson JL; Waud WR; Rajagopalan KV; Duran M; Beemer FA; Wadman SK
Proc Natl Acad Sci U S A; 1980 Jun; 77(6):3715-9. PubMed ID: 6997882
[TBL] [Abstract][Full Text] [Related]
11. [Double deficiency of sulfite and xanthine oxidase causing encephalopathy and due to a hereditary anomaly in the metabolism of molybdenum].
Ogier H; Saudubray JM; Charpentier C; Munnich A; Perignon JL; Kesseler A; Frezal J
Ann Med Interne (Paris); 1982; 133(8):594-6. PubMed ID: 6897810
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. 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]
14. [Sulfite oxidase deficiency presenting as Leigh syndrome].
Amiel J; Gagey V; Rabier D; Dorche C; Bonnefont JP; Dufier JL; Saudubray JM; Rey J; Munnich A
Arch Pediatr; 1994 Nov; 1(11):1023-7. PubMed ID: 7834040
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. 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]
17. 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]
18. [Isolated sulfite oxidase deficiency].
Matsuishi T; Wada N; Isakai T; Togo A
Ryoikibetsu Shokogun Shirizu; 1998; (19 Pt 2):189-91. PubMed ID: 9645040
[No Abstract] [Full Text] [Related]
19. Determination of urinary S-sulphocysteine, xanthine and hypoxanthine by liquid chromatography-electrospray tandem mass spectrometry.
Rashed MS; Saadallah AA; Rahbeeni Z; Eyaid W; Seidahmed MZ; Al-Shahwan S; Salih MA; Osman ME; Al-Amoudi M; Al-Ahaidib L; Jacob M
Biomed Chromatogr; 2005 Apr; 19(3):223-30. PubMed ID: 15558695
[TBL] [Abstract][Full Text] [Related]
20. A mild form of infantile isolated sulphite oxidase deficiency.
Barbot C; Martins E; Vilarinho L; Dorche C; Cardoso ML
Neuropediatrics; 1995 Dec; 26(6):322-4. PubMed ID: 8719749
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
