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Volumn 78, Issue 17, 2012, Pages 1304-1308

MRI as diagnostic tool in early-onset peroxisomal disorders

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; BRAIN STEM; CAPSULA INTERNA; CLINICAL ARTICLE; CORPUS CALLOSUM; DENTATE NUCLEUS; DIAGNOSTIC ACCURACY; DIAGNOSTIC TEST ACCURACY STUDY; DISORDERS OF PEROXISOMAL FUNCTIONS; FIBROBLAST; HUMAN; IMMUNOFLUORESCENCE MICROSCOPY; LEUKOENCEPHALOPATHY; MALE; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; PROTEIN DEFICIENCY; SUPERIOR CEREBELLAR PEDUNCLE; WHITE MATTER; ZELLWEGER SYNDROME;

EID: 84860720113     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0b013e31825182dc     Document Type: Article
Times cited : (37)

References (10)
  • 3
    • 33845304296 scopus 로고    scopus 로고
    • Peroxisomal disorders: The single peroxisomal enzyme deficiencies
    • DOI 10.1016/j.bbamcr.2006.08.010, PII S0167488906002424, Peroxisomes: Morphology, Function, Biogenesis and Disorders
    • Wanders RJ, Waterham HR. Peroxisomal disorders: The single peroxisomal enzyme deficiencies. Biochim Biophys Acta 2006;1763:1707-1720. (Pubitemid 44880473)
    • (2006) Biochimica et Biophysica Acta - Molecular Cell Research , vol.1763 , Issue.12 , pp. 1707-1720
    • Wanders, R.J.A.1    Waterham, H.R.2
  • 5
    • 0001687866 scopus 로고    scopus 로고
    • The peroxisome biogenesis disorders
    • Scriver CR, Beaudet AL, Sly WS, Valle D, eds. New York: McGraw-Hill
    • Gould SJ, Raymond GV, Valle D. The peroxisome biogenesis disorders. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease. New York: McGraw-Hill; 2001:3181-3217.
    • (2001) The Metabolic and Molecular Bases of Inherited Disease , pp. 3181-3217
    • Gould, S.J.1    Raymond, G.V.2    Valle, D.3
  • 7
    • 78650546151 scopus 로고    scopus 로고
    • Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder
    • Ebberink MS, Mooijer PA, Gootjes J, Koster J, Wanders RJ, Waterham HR. Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder. Hum Mutat 2011;32:59-69.
    • (2011) Hum Mutat , vol.32 , pp. 59-69
    • Ebberink, M.S.1    Mooijer, P.A.2    Gootjes, J.3    Koster, J.4    Wanders, R.J.5    Waterham, H.R.6
  • 8
    • 78650035851 scopus 로고    scopus 로고
    • Neurodegeneration in D-bifunctional protein deficiency: Diagnostic clues and natural history using serial magnetic resonance imaging
    • Khan A, Wei XC, Snyder FF, Mah JK, Waterham H, Wanders RJ. Neurodegeneration in D-bifunctional protein deficiency: Diagnostic clues and natural history using serial magnetic resonance imaging. Neuroradiology 2010; 52:1163-1166.
    • (2010) Neuroradiology , vol.52 , pp. 1163-1166
    • Khan, A.1    Wei, X.C.2    Snyder, F.F.3    Mah, J.K.4    Waterham, H.5    Wanders, R.J.6
  • 10
    • 78049244101 scopus 로고    scopus 로고
    • Typical cMRI pattern as diagnostic clue for D-bifunctional protein deficiency without apparent biochemical abnormalities in plasma
    • Grønborg S, Krätzner R, Spiegler J, et al. Typical cMRI pattern as diagnostic clue for D-bifunctional protein deficiency without apparent biochemical abnormalities in plasma. Am J Med Genet A 2010;152A:2845-2849.
    • (2010) Am J Med Genet A , vol.152 A , pp. 2845-2849
    • Grønborg, S.1    Krätzner, R.2    Spiegler, J.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.