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2. A novel mutation in neonatal isolated sulphite oxidase deficiency. Lee HF; Mak BS; Chi CS; Tsai CR; Chen CH; Shu SG Neuropediatrics; 2002 Aug; 33(4):174-9. PubMed ID: 12368985 [TBL] [Abstract][Full Text] [Related]
3. Magnetic resonance imaging and magnetic resonance spectroscopy in isolated sulfite oxidase deficiency. Hoffmann C; Ben-Zeev B; Anikster Y; Nissenkorn A; Brand N; Kuint J; Kushnir T J Child Neurol; 2007 Oct; 22(10):1214-21. PubMed ID: 17940249 [TBL] [Abstract][Full Text] [Related]
4. 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]
5. 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]
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7. Isolated sulfite oxidase deficiency: a case report with a novel mutation and review of the literature. Tan WH; Eichler FS; Hoda S; Lee MS; Baris H; Hanley CA; Grant PE; Krishnamoorthy KS; Shih VE Pediatrics; 2005 Sep; 116(3):757-66. PubMed ID: 16140720 [TBL] [Abstract][Full Text] [Related]
8. Isolated sulfite oxidase deficiency: mutation analysis and DNA-based prenatal diagnosis. Johnson JL; Rajagopalan KV; Renier WO; Van der Burgt I; Ruitenbeek W Prenat Diagn; 2002 May; 22(5):433-6. PubMed ID: 12001203 [TBL] [Abstract][Full Text] [Related]
9. 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]
10. [Early mitochondrial encephalomyopathy due to complex IV deficiency consistent with Alpers-Huttenlocher syndrome: report of two cases]. Castro-Gago M; González-Conde V; Fernández-Seara MJ; Rodrigo-Sáez E; Fernández-Cebrián S; Alonso-Martín A; Campos Y; Arenas J; Eirís-Puñal J Rev Neurol; 1999 Nov 16-30; 29(10):912-7. PubMed ID: 10637838 [TBL] [Abstract][Full Text] [Related]
11. An inborn error of metabolism presenting as hypoxic-ischemic insult. Eyaid WM; Al-Nouri DM; Rashed MS; Al-Rifai MT; Al-Wakeel AS Pediatr Neurol; 2005 Feb; 32(2):134-6. PubMed ID: 15664777 [TBL] [Abstract][Full Text] [Related]
12. Cytochrome c oxidase deficiency in Leigh syndrome. DiMauro S; Servidei S; Zeviani M; DiRocco M; DeVivo DC; DiDonato S; Uziel G; Berry K; Hoganson G; Johnsen SD Ann Neurol; 1987 Oct; 22(4):498-506. PubMed ID: 2829705 [TBL] [Abstract][Full Text] [Related]
13. Clinical and laboratory survey of 65 Chinese patients with Leigh syndrome. Yang YL; Sun F; Zhang Y; Qian N; Yuan Y; Wang ZX; Qi Y; Xiao JX; Wang XY; Qi ZY; Zhang YH; Jiang YW; Bao XH; Qin J; Wu XR Chin Med J (Engl); 2006 Mar; 119(5):373-7. PubMed ID: 16542579 [TBL] [Abstract][Full Text] [Related]
14. 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]
15. 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]
16. 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]
17. DNA-based diagnosis of isolated sulfite oxidase deficiency by denaturing high-performance liquid chromatography. Lam CW; Li CK; Lai CK; Tong SF; Chan KY; Ng GS; Yuen YP; Cheng AW; Chan YW Mol Genet Metab; 2002 Jan; 75(1):91-5. PubMed ID: 11825068 [TBL] [Abstract][Full Text] [Related]
18. Isolated sulfite oxidase deficiency: review of two cases in one family. Edwards MC; Johnson JL; Marriage B; Graf TN; Coyne KE; Rajagopalan KV; MacDonald IM Ophthalmology; 1999 Oct; 106(10):1957-61. PubMed ID: 10519592 [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]