메뉴 건너뛰기




Volumn 32, Issue 1, 2012, Pages 51-54

Lysosomal disorders associated with leukoencephalopathy

Author keywords

leukodystrophy; leukoencephalopathy; lysosomal storage disorder

Indexed keywords

ALPHA LEVO FUCOSIDASE; ANTICONVULSIVE AGENT; BETA GALACTOSIDASE; GALACTOSYLCERAMIDASE; GANGLIOSIDE GM1; SIALIC ACID; SULFATASE; SULFATIDE;

EID: 84858136140     PISSN: 02718235     EISSN: 10989021     Source Type: Journal    
DOI: 10.1055/s-0032-1306386     Document Type: Review
Times cited : (20)

References (29)
  • 3
    • 80054918496 scopus 로고    scopus 로고
    • A case report of Sandhoff disease
    • Saouab R, Mahi M, Abilkacem R., et al. A case report of Sandhoff disease. Clin Neuroradiol: 2011; 21 2 83 85
    • (2011) Clin Neuroradiol , vol.21 , Issue.2 , pp. 83-85
    • Saouab, R.1    Mahi, M.2    Abilkacem, R.3
  • 4
    • 0032231360 scopus 로고    scopus 로고
    • MR imaging and localized proton MR spectroscopy in late infantile neuronal ceroid lipofuscinosis
    • Seitz D, Grodd W, Schwab A, Seeger U, Klose U, Nägele T. MR imaging and localized proton MR spectroscopy in late infantile neuronal ceroid lipofuscinosis. AJNR Am J Neuroradiol: 1998; 19 7 1373 1377 (Pubitemid 30418690)
    • (1998) American Journal of Neuroradiology , vol.19 , Issue.7 , pp. 1373-1377
    • Seitz, D.1    Grodd, W.2    Schwab, A.3    Seeger, U.4    Klose, U.5    Nagele, T.6
  • 6
    • 4444287601 scopus 로고    scopus 로고
    • Brain MRI findings in patients with mucopolysaccharidosis types I and II and mild clinical presentation
    • Matheus MG, Castillo M, Smith JK, Armao D, Towle D, Muenzer J. Brain MRI findings in patients with mucopolysaccharidosis types I and II and mild clinical presentation. Neuroradiology: 2004; 46 8 666 672 (Pubitemid 39199525)
    • (2004) Neuroradiology , vol.46 , Issue.8 , pp. 666-672
    • Matheus, M.G.1    Castillo, M.2    Smith, J.K.3    Armao, D.4    Towle, D.5    Muenzer, J.6
  • 7
    • 70350618788 scopus 로고    scopus 로고
    • Treatment reduces or stabilizes brain imaging abnormalities in patients with MPS i and II
    • Wang RY, Cambray-Forker EJ, Ohanian K., et al. Treatment reduces or stabilizes brain imaging abnormalities in patients with MPS I and II. Mol Genet Metab: 2009; 98 4 406 411
    • (2009) Mol Genet Metab , vol.98 , Issue.4 , pp. 406-411
    • Wang, R.Y.1    Cambray-Forker, E.J.2    Ohanian, K.3
  • 8
    • 41849087005 scopus 로고    scopus 로고
    • Dilated Perivascular Spaces: An Informative Radiologic Finding in Sanfilippo Syndrome Type A
    • DOI 10.1016/j.pediatrneurol.2008.01.009, PII S088789940800057X
    • Kara S, Sherr EH, Barkovich AJ. Dilated perivascular spaces: an informative radiologic finding in Sanfilippo syndrome type A. Pediatr Neurol: 2008; 38 5 363 366 (Pubitemid 351503734)
    • (2008) Pediatric Neurology , vol.38 , Issue.5 , pp. 363-366
    • Kara, S.1    Sherr, E.H.2    Barkovich, A.J.3
  • 9
    • 79959802247 scopus 로고    scopus 로고
    • Brain and spine MRI features of Hunter disease: Frequency, natural evolution and response to therapy
    • Manara R, Priante E, Grimaldi M., et al. Brain and spine MRI features of Hunter disease: frequency, natural evolution and response to therapy. J Inherit Metab Dis: 2011; 34 3 763 780
    • (2011) J Inherit Metab Dis , vol.34 , Issue.3 , pp. 763-780
    • Manara, R.1    Priante, E.2    Grimaldi, M.3
  • 11
    • 84858750296 scopus 로고    scopus 로고
    • Metachromatic leukodystrophy
    • Raymond G. Eichler F. Fatemi A. Naidu S., eds. London Mac Keith Press
    • Gieselmann V, Krugeloh-Mann I. Metachromatic leukodystrophy. In: Raymond G, Eichler F, Fatemi A, Naidu S., eds. Leukodystrophies. London Mac Keith Press: 2011; 130 155
    • (2011) Leukodystrophies , pp. 130-155
    • Gieselmann, V.1    Krugeloh-Mann, I.2
  • 12
    • 0036582584 scopus 로고    scopus 로고
    • Leukodystrophy in children: A pictorial review of MR imaging features
    • Cheon JE, Kim IO, Hwang YS., et al. Leukodystrophy in children: a pictorial review of MR imaging features. Radiographics: 2002; 22 3 461 476
    • (2002) Radiographics , vol.22 , Issue.3 , pp. 461-476
    • Cheon, J.E.1    Kim, I.O.2    Hwang, Y.S.3
  • 13
    • 71449093485 scopus 로고    scopus 로고
    • Metachromatic leukodystrophy: A scoring system for brain MR imaging observations
    • Eichler F, Grodd W, Grant E., et al. Metachromatic leukodystrophy: a scoring system for brain MR imaging observations. AJNR Am J Neuroradiol: 2009; 30 10 1893 1897
    • (2009) AJNR Am J Neuroradiol , vol.30 , Issue.10 , pp. 1893-1897
    • Eichler, F.1    Grodd, W.2    Grant, E.3
  • 14
    • 82955212940 scopus 로고    scopus 로고
    • Metachromatic leukodystrophy: Natural course of cerebral MRI changes in relation to clinical course
    • Groeschel S, Kehrer C, Engel C., et al. Metachromatic leukodystrophy: natural course of cerebral MRI changes in relation to clinical course. J Inherit Metab Dis: 2011; 34 5 1095 1102
    • (2011) J Inherit Metab Dis , vol.34 , Issue.5 , pp. 1095-1102
    • Groeschel, S.1    Kehrer, C.2    Engel, C.3
  • 15
    • 33947640501 scopus 로고    scopus 로고
    • Enzyme, cell and gene-based therapies for metachromatic leukodystrophy
    • DOI 10.1007/s10545-007-0540-z
    • Sevin C, Aubourg P, Cartier N. Enzyme, cell and gene-based therapies for metachromatic leukodystrophy. J Inherit Metab Dis: 2007; 30 2 175 183 (Pubitemid 46487998)
    • (2007) Journal of Inherited Metabolic Disease , vol.30 , Issue.2 , pp. 175-183
    • Sevin, C.1    Aubourg, P.2    Cartier, N.3
  • 16
  • 18
    • 84858753465 scopus 로고    scopus 로고
    • Krabbe disease (globoid cell leukodystrophy)
    • Raymond G. Eichler F. Fatemi A. Naidu S., eds. London Mac Keith Press
    • Wenger DA. Krabbe disease (globoid cell leukodystrophy). In: Raymond G, Eichler F, Fatemi A, Naidu S., eds. Leukodystrophies. London Mac Keith Press: 2011; 90 105
    • (2011) Leukodystrophies , pp. 90-105
    • Wenger, D.A.1
  • 21
    • 69549085113 scopus 로고    scopus 로고
    • The long-term outcomes of presymptomatic infants transplanted for Krabbe disease: Report of the workshop held on July 11 and 12, 2008, Holiday Valley, New York
    • Duffner PK, Caviness VS Jr, Erbe RW., et al. The long-term outcomes of presymptomatic infants transplanted for Krabbe disease: report of the workshop held on July 11 and 12, 2008, Holiday Valley, New York. Genet Med: 2009; 11 6 450 454
    • (2009) Genet Med , vol.11 , Issue.6 , pp. 450-454
    • Duffner, P.K.1    Caviness Jr., V.S.2    Erbe, R.W.3
  • 22
    • 46749113388 scopus 로고    scopus 로고
    • GM1 gangliosidosis: Review of clinical, molecular, and therapeutic aspects
    • Brunetti-Pierri N, Scaglia F. GM1 gangliosidosis: review of clinical, molecular, and therapeutic aspects. Mol Genet Metab: 2008; 94 4 391 396
    • (2008) Mol Genet Metab , vol.94 , Issue.4 , pp. 391-396
    • Brunetti-Pierri, N.1    Scaglia, F.2
  • 24
    • 0026026852 scopus 로고
    • Fucosidosis revisited: A review of 77 patients
    • Willems PJ, Gatti R, Darby JK., et al. Fucosidosis revisited: a review of 77 patients. Am J Med Genet: 1991; 38 1 111 131
    • (1991) Am J Med Genet , vol.38 , Issue.1 , pp. 111-131
    • Willems, P.J.1    Gatti, R.2    Darby, J.K.3
  • 25
    • 34548742840 scopus 로고    scopus 로고
    • Fucosidosis: MRI and MRS findings
    • DOI 10.1007/s00247-007-0572-4
    • Oner AY, Cansu A, Akpek S, Serdaroglu A. Fucosidosis: MRI and MRS findings. Pediatr Radiol: 2007; 37 10 1050 1052 (Pubitemid 47423305)
    • (2007) Pediatric Radiology , vol.37 , Issue.10 , pp. 1050-1052
    • Oner, A.Y.1    Cansu, A.2    Akpek, S.3    Serdaroglu, A.4
  • 26
    • 77957688535 scopus 로고    scopus 로고
    • Magnetic resonance imaging pattern recognition in hypomyelinating disorders
    • Steenweg ME, Vanderver A, Blaser S., et al. Magnetic resonance imaging pattern recognition in hypomyelinating disorders. Brain: 2010; 133 10 2971 2982
    • (2010) Brain , vol.133 , Issue.10 , pp. 2971-2982
    • Steenweg, M.E.1    Vanderver, A.2    Blaser, S.3
  • 27
    • 0343192508 scopus 로고    scopus 로고
    • Central and peripheral nervous system dysfunction in the clinical variation of Salla disease
    • Varho T, Jääskeläinen S, Tolonen U., et al. Central and peripheral nervous system dysfunction in the clinical variation of Salla disease. Neurology: 2000; 55 1 99 104
    • (2000) Neurology , vol.55 , Issue.1 , pp. 99-104
    • Varho, T.1    Jääskeläinen, S.2    Tolonen, U.3
  • 29
    • 10444259007 scopus 로고    scopus 로고
    • Neuroimaging in leukodystrophies
    • Barker PB, Horsk A. Neuroimaging in leukodystrophies. J Child Neurol: 2004; 19 8 559 570 (Pubitemid 39642369)
    • (2004) Journal of Child Neurology , vol.19 , Issue.8 , pp. 559-570
    • Barker, P.B.1    Horska, A.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.