메뉴 건너뛰기




Volumn 51, Issue 1, 2014, Pages 181-182

Prenatal multicystic encephalopathy in isolated sulfite oxidase deficiency with a novel mutaion

Author keywords

[No Author keywords available]

Indexed keywords

SULFITE OXIDASE; OXIDOREDUCTASE; STOP CODON; SUOX PROTEIN, HUMAN;

EID: 84902482987     PISSN: 08878994     EISSN: 18735150     Source Type: Journal    
DOI: 10.1016/j.pediatrneurol.2014.03.010     Document Type: Article
Times cited : (14)

References (4)
  • 1
    • 17144439627 scopus 로고    scopus 로고
    • Isolated sulfite oxidase deficiency: Identification of 12 novel SUOX mutations in 10 patients
    • J.L. Johnson, K.E. Coyne, and R.M. Garrett et al. Isolated sulfite oxidase deficiency: identification of 12 novel SUOX mutations in 10 patients Hum Mutat 20 1 2002 74
    • (2002) Hum Mutat , vol.20 , Issue.1 , pp. 74
    • Johnson, J.L.1    Coyne, K.E.2    Garrett, R.M.3
  • 2
    • 33644625000 scopus 로고    scopus 로고
    • Isolated sulfite oxidase deficiency: A case report with a novel mutation and review of the literature
    • W.H. Tan, F.S. Eichler, and S. Hoda et al. Isolated sulfite oxidase deficiency: a case report with a novel mutation and review of the literature Pediatrics 116 3 2005 757 766
    • (2005) Pediatrics , vol.116 , Issue.3 , pp. 757-766
    • Tan, W.H.1    Eichler, F.S.2    Hoda, S.3
  • 3
    • 0036130408 scopus 로고    scopus 로고
    • Isolated sulfite oxidase deficiency: MR imaging features
    • A.B. Dublin, J.K. Hald, and S.L. Wootton-Gorges Isolated sulfite oxidase deficiency: MR imaging features AJNR Am J Neuroradiol 23 3 2002 484 485
    • (2002) AJNR Am J Neuroradiol , vol.23 , Issue.3 , pp. 484-485
    • Dublin, A.B.1    Hald, J.K.2    Wootton-Gorges, S.L.3
  • 4
    • 84862546125 scopus 로고    scopus 로고
    • 99mTc-ethyl cysteinate dimer cranial single-photon emission computed tomography and serial cranial magnetic resonance imaging in a girl with isolated sulfite oxidase deficiency
    • Y.L. Huang, D.S. Lin, J.K. Huang, N.C. Chiu, and C.S. Ho 99mTc-ethyl cysteinate dimer cranial single-photon emission computed tomography and serial cranial magnetic resonance imaging in a girl with isolated sulfite oxidase deficiency Pediatr Neurol 47 1 2012 44 46
    • (2012) Pediatr Neurol , vol.47 , Issue.1 , pp. 44-46
    • Huang, Y.L.1    Lin, D.S.2    Huang, J.K.3    Chiu, N.C.4    Ho, C.S.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.