169 related articles for article (PubMed ID: 10519592)
1. 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]
2. 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]
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. 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]
5. 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]
6. Isolated sulfite oxidase deficiency.
Claerhout H; Witters P; RĂ©gal L; Jansen K; Van Hoestenberghe MR; Breckpot J; Vermeersch P
J Inherit Metab Dis; 2018 Jan; 41(1):101-108. PubMed ID: 28980090
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. Sulfite oxidase deficiency--an unusual late and mild presentation.
Rocha S; Ferreira AC; Dias AI; Vieira JP; Sequeira S
Brain Dev; 2014 Feb; 36(2):176-9. PubMed ID: 23452914
[TBL] [Abstract][Full Text] [Related]
9. Isolated sulfite oxidase deficiency: identification of 12 novel SUOX mutations in 10 patients.
Johnson JL; Coyne KE; Garrett RM; Zabot MT; Dorche C; Kisker C; Rajagopalan KV
Hum Mutat; 2002 Jul; 20(1):74. PubMed ID: 12112661
[TBL] [Abstract][Full Text] [Related]
10. Identification of a novel SUOX pathogenic variants as the cause of isolated sulfite oxidase deficiency in a Chinese pedigree.
Du P; Hassan RN; Luo H; Xie J; Zhu Y; Hu Q; Yan J; Jiang W
Mol Genet Genomic Med; 2021 Feb; 9(2):e1590. PubMed ID: 33405344
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. 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]
13. 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]
14. Infantile spasms and hyperekplexia associated with isolated sulfite oxidase deficiency.
Holder JL; Agadi S; Reese W; Rehder C; Quach MM
JAMA Neurol; 2014 Jun; 71(6):782-4. PubMed ID: 24756183
[TBL] [Abstract][Full Text] [Related]
15. Microarray analysis unmasked paternal uniparental disomy of chromosome 12 in a patient with isolated sulfite oxidase deficiency.
Cho SY; Goh DL; Lau KC; Ong HT; Lam CW
Clin Chim Acta; 2013 Nov; 426():13-7. PubMed ID: 23994568
[TBL] [Abstract][Full Text] [Related]
16. Prenatal diagnosis of molybdenum cofactor deficiency and isolated sulfite oxidase deficiency.
Johnson JL
Prenat Diagn; 2003 Jan; 23(1):6-8. PubMed ID: 12533804
[TBL] [Abstract][Full Text] [Related]
17. Sulfite oxidase deficiency: clinical, neuroradiologic, and biochemical features in two new patients.
Brown GK; Scholem RD; Croll HB; Wraith JE; McGill JJ
Neurology; 1989 Feb; 39(2 Pt 1):252-7. PubMed ID: 2915798
[TBL] [Abstract][Full Text] [Related]
18. Postmortem whole-genome sequencing on a dried blood spot identifies a novel homozygous SUOX variant causing isolated sulfite oxidase deficiency.
Owen MJ; Lenberg J; Feigenbaum A; Gold J; Chau K; Bezares-Orin Z; Ding Y; Chowdhury S; Kingsmore SF
Cold Spring Harb Mol Case Stud; 2021 Jun; 7(3):. PubMed ID: 34117075
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. Infantile isolated sulphite oxidase deficiency in a Chinese family: a rare neurodegenerative disorder.
Chan KY; Li CK; Lai CK; Ng SF; Chan AY
Hong Kong Med J; 2002 Aug; 8(4):279-82. PubMed ID: 12167732
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]