메뉴 건너뛰기




Volumn , Issue , 2010, Pages 427-448

Metabolic and neurodegenerative disorders across the lifespan

Author keywords

[No Author keywords available]

Indexed keywords


EID: 79955959509     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1017/CBO9780511674815.033     Document Type: Chapter
Times cited : (6)

References (87)
  • 3
    • 0034718378 scopus 로고    scopus 로고
    • Long-term beneficial effect of bone marrow transplantation for childhood onset cerebral x-linked adrenoleukodystrophy
    • Shapiro E, Krivit W, Lockman L, Jambaque I, Peters C, Cowan M, et al. Long-term beneficial effect of bone marrow transplantation for childhood onset cerebral X-linked adrenoleukodystrophy. Lancet 2000;356:713-18.
    • (2000) Lancet , vol.356 , pp. 713-718
    • Shapiro, E.1    Krivit, W.2    Lockman, L.3    Jambaque, I.4    Peters, C.5    Cowan, M.6
  • 4
    • 3242762263 scopus 로고    scopus 로고
    • Cerebral x-linked adrenoleukodystrophy: The international hematopoietic cell transplantation experience from 1982 to 1999
    • Peters C, Charnas L, Tan Y, Ziegler R, Shapiro E, DeFor T, et al. Cerebral X-linked adrenoleukodystrophy: the international hematopoietic cell transplantation experience from 1982 to 1999. Blood 2004;104:881-8.
    • (2004) Blood , vol.104 , pp. 881-888
    • Peters, C.1    Charnas, L.2    Tan, Y.3    Ziegler, R.4    Shapiro, E.5    DeFor, T.6
  • 5
    • 0032055564 scopus 로고    scopus 로고
    • Hurler syndrome: Ii. Outcome of hla-genotypically identical sibling and hla-haploidentical related donor bone marrow transplantation in fifty-four children
    • Peters C, Shapiro E, Anderson J, Henslee-Downey J, Klemperer M, Cowan M, et al. Hurler Syndrome: II. Outcome of HLA-genotypically identical sibling and HLA-haploidentical related donor bone marrow transplantation in fifty-four children. Blood 1998;91:2601-8.
    • (1998) Blood , vol.91 , pp. 2601-2608
    • Peters, C.1    Shapiro, E.2    Erson, J.3    Henslee-Downey, J.4    Klemperer, M.5    Cowan, M.6
  • 6
    • 9344245169 scopus 로고    scopus 로고
    • Outcome of unrelated donor bone marrow transplantation in forty children with hurler syndrome
    • Peters C, Balthazor M, Shapiro E, King R, Kollman C, Hegland J, et al. Outcome of unrelated donor bone marrow transplantation in forty children with Hurler syndrome. Blood 1996;87:4894-902.
    • (1996) Blood , vol.87 , pp. 4894-4902
    • Peters, C.1    Balthazor, M.2    Shapiro, E.3    King, R.4    Kollman, C.5    Hegland, J.6
  • 7
    • 0025890255 scopus 로고
    • The hopkins verbal learning test: Development of a new memory test with six equivalent forms
    • Brandt J. The Hopkins Verbal Learning Test: development of a new memory test with six equivalent forms. Clin Neuropsychol 1991;5:125-42.
    • (1991) Clin Neuropsychol , vol.5 , pp. 125-142
    • Brandt, J.1
  • 8
    • 0030055207 scopus 로고    scopus 로고
    • Revision of the brief visuospatial memory test: Studies of normal performance, reliability, and validity
    • Benedict RHB, Schretlen D, Groninger L, Dobraski M, Shpritz, B. Revision of the Brief Visuospatial Memory Test: studies of normal performance, reliability, and validity. Psychol Assess 1996;8:145-53.
    • (1996) Psychol Assess , vol.8 , pp. 145-153
    • Benedict, R.1    Schretlen, D.2    Groninger, L.3    Dobraski, M.4    Shpritz, B.5
  • 9
    • 18244406803 scopus 로고    scopus 로고
    • Hemophilia growth and development study. Quantifying practice effects in longitudinal research with the wisc-r and wais-r: A study of children and adolescents with hemophilia and male siblings without hemophilia
    • Sirois P, Posner M, Stehbens JA, Loveland KA, Nichols S, Donfield SM, et al. Hemophilia Growth and Development Study. Quantifying practice effects in longitudinal research with the WISC-R and WAIS-R: A study of children and adolescents with hemophilia and male siblings without hemophilia. J Ped Psychol 2002;27:121-31.
    • (2002) J Ped Psychol , vol.27 , pp. 121-131
    • Sirois, P.1    Posner, M.2    Stehbens, J.A.3    Loveland, K.A.4    Nichols, S.5    Donfield, S.M.6
  • 10
    • 12444330953 scopus 로고    scopus 로고
    • Correlates of within-person (Across-occasion) variability in reaction time
    • Salthouse TA, Berish DE. Correlates of within-person (across-occasion) variability in reaction time. Neuropsychology 2005;19:77-87.
    • (2005) Neuropsychology , vol.19 , pp. 77-87
    • Salthouse, T.A.1    Berish, D.E.2
  • 11
    • 0034858796 scopus 로고    scopus 로고
    • Intraindividual variability in cognitive performance in persons with chronic fatigue syndrome
    • Fuentes K, Hunter MA, Strauss E, Hultsch DF. Intraindividual variability in cognitive performance in persons with chronic fatigue syndrome. Clin Neuropsychol 2001;15:210-27.
    • (2001) Clin Neuropsychol , vol.15 , pp. 210-227
    • Fuentes, K.1    Hunter, M.A.2    Strauss, E.3    Hultsch, D.F.4
  • 13
    • 0036849613 scopus 로고    scopus 로고
    • Intraindividual variability in cognitive performance in three groups of older adults: Cross-domain links to physical status and self-perceived affect and beliefs
    • Strauss E, MacDonald S, Hunter M, Moll A, Hultsch DF. Intraindividual variability in cognitive performance in three groups of older adults: cross-domain links to physical status and self-perceived affect and beliefs. J Int Neuropsych Soc 2002;8:893-906.
    • (2002) J Int Neuropsych Soc , vol.8 , pp. 893-906
    • Strauss, E.1    MacDonald, S.2    Hunter, M.3    Moll, A.4    Hultsch, D.F.5
  • 14
    • 33746289601 scopus 로고    scopus 로고
    • Bunce d. Intraindividual variability in vigilance performance: Does degrading visual stimuli mimic age-related “neural noise”?
    • Macdonald S, Hultsch DF, Bunce D. Intraindividual variability in vigilance performance: does degrading visual stimuli mimic age-related “neural noise”?’ J Clin Exp Neuropsychol 2006;28:655-75.
    • (2006) J Clin Exp Neuropsychol , vol.28 , pp. 655-675
    • Macdonald, S.1    Hultsch, D.F.2
  • 16
    • 2642521327 scopus 로고    scopus 로고
    • Measurement of vigilance in 2-year old children
    • Goldman D, Shapiro E, Nelson CA. Measurement of vigilance in 2-year old children. Dev Neuropsychol 2004;25:227-50.
    • (2004) Dev Neuropsychol , vol.25 , pp. 227-250
    • Goldman, D.1    Shapiro, E.2    Nelson, C.A.3
  • 17
    • 37549035079 scopus 로고    scopus 로고
    • The color object association test (Coat): The development of a new measure of declarative memory for 18 to 36 month- old toddlers
    • Jordan C, Hughes S, Johnson A, Shapiro E. The Color Object Association Test (COAT): the development of a new measure of declarative memory for 18 to 36 month- old toddlers. Child Neuropsychol 2008;14:21-41.
    • (2008) Child Neuropsychol , vol.14 , pp. 21-41
    • Jordan, C.1    Hughes, S.2    Johnson, A.3    Shapiro, E.4
  • 22
    • 33747166925 scopus 로고    scopus 로고
    • Metabolic and neurodegenerative disorders of childhood
    • Taylor G. Ris D, Yeates K, eds.,. New York: Guilford Press
    • Shapiro E, Balthazor M. Metabolic and neurodegenerative disorders of childhood. In Taylor G. Ris D, Yeates K, eds. Pediatric Neuropsychology: Research, Theory and Practice. New York: Guilford Press; 2001: 171-205.
    • (2001) Pediatric Neuropsychology: Research, Theory and Practice , pp. 171-205
    • Shapiro, E.1    Balthazor, M.2
  • 25
    • 0028331972 scopus 로고
    • Effect of visual impairment on neuropsychological test performance
    • Kempen J, Kritchevsky M, Feldman ST. Effect of visual impairment on neuropsychological test performance. J Clin Exp Neuropsychol 1994;16:223-31.
    • (1994) J Clin Exp Neuropsychol , vol.16 , pp. 223-231
    • Kempen, J.1    Kritchevsky, M.2    Feldman, S.T.3
  • 26
    • 84970316085 scopus 로고
    • Cognitive processing of students with and without hearing loss
    • Das JP, Ojile E. Cognitive processing of students with and without hearing loss. J Spec Educ 1995;29:323-36.
    • (1995) J Spec Educ , vol.29 , pp. 323-336
    • Das, J.P.1    Ojile, E.2
  • 27
    • 0029114944 scopus 로고
    • The future for treatment by bone marrow transplantation for adrenoleukodystrophy, metachromatic leukodystrophy, globoid cell leukodystrophy and hurler syndrome
    • Krivit W, Lockman L, Watkins P.A, Hirsch J, Shapiro E. The future for treatment by bone marrow transplantation for adrenoleukodystrophy, metachromatic leukodystrophy, globoid cell leukodystrophy and Hurler syndrome. JInher Metab Dis 1995;18:398-412.
    • (1995) Jinher Metab Dis , vol.18 , pp. 398-412
    • Krivit, W.1    Lockman, L.2    Watkins, P.A.3    Hirsch, J.4    Shapiro, E.5
  • 29
    • 37349018023 scopus 로고    scopus 로고
    • Visual function of a patient with advanced adrenoleukodystrophy: Comparison of luminance and color contrast sensitivities
    • Sakai S, Hirayama K, Ogura K, Sakai N, Sudoh M, Murata N, Iwasaki S. Visual function of a patient with advanced adrenoleukodystrophy: comparison of luminance and color contrast sensitivities. Brain Dev 2008;30:68-72.
    • (2008) Brain Dev , vol.30 , pp. 68-72
    • Sakai, S.1    Hirayama, K.2    Ogura, K.3    Sakai, N.4    Sudoh, M.5    Murata, N.6    Iwasaki, S.7
  • 30
    • 0036556486 scopus 로고    scopus 로고
    • Motor and psycho-cognitive clinical types in adult metachromatic leukodystrophy: Genotype/phenotype relationships
    • Baumann N, Turpin J-C, Lefevre M, Colsch B. Motor and psycho-cognitive clinical types in adult metachromatic leukodystrophy: genotype/phenotype relationships. J Physiol Paris 2002;96:301-6.
    • (2002) J Physiol Paris , vol.96 , pp. 301-306
    • Baumann, N.1    Turpin, J.-C.2    Lefevre, M.3    Colsch, B.4
  • 31
    • 0026670348 scopus 로고
    • White matter dysfunction and its neuropsychological correlates: A longitudinal study of a case of metachromatic leukodystrophy treated with bone marrow transplant
    • Shapiro E, Lipton M, Krivit W. White matter dysfunction and its neuropsychological correlates: a longitudinal study of a case of metachromatic leukodystrophy treated with bone marrow transplant. J Clin Exp Neuropsychol 1992;14:610-24.
    • (1992) J Clin Exp Neuropsychol , vol.14 , pp. 610-624
    • Shapiro, E.1    Lipton, M.2    Krivit, W.3
  • 32
    • 84926103972 scopus 로고    scopus 로고
    • Language, hearing loss, and mental development in hurler syndrome
    • Shapiro E, Thrall M, Peters C, Krivit W. Language, hearing loss, and mental development in Hurler syndrome. J Int Neuropsychol Soc 2000;6:161(Abstract).
    • (2000) J Int Neuropsychol Soc , vol.6 , pp. 161
    • Shapiro, E.1    Thrall, M.2    Peters, C.3    Krivit, W.4
  • 33
    • 13244265477 scopus 로고    scopus 로고
    • Assessment of adrenoleukodystrophy lesions by high field mrs in non-sedated pediatric patients
    • Oz G, Tkac I, Charnas L, Choi I-Y, Bjoraker K. Shapiro E, Gruetter R. Assessment of adrenoleukodystrophy lesions by high field MRS in non-sedated pediatric patients. Neurology 2005;64:434-41.
    • (2005) Neurology , vol.64 , pp. 434-441
    • Oz, G.1    Tkac, I.2    Charnas, L.3    Choi, I.-Y.4    Bjoraker, K.5    Shapiro, E.6    Gruetter, R.7
  • 34
    • 0037840812 scopus 로고    scopus 로고
    • Diffusion tensor imaging in cases of adrenoleukodystrophy: Preliminary experience as a marker for early demyelination?
    • Schneider JFL, Il’yansov KA, Boltshauser E, Henniga J, Martin E. Diffusion tensor imaging in cases of adrenoleukodystrophy: preliminary experience as a marker for early demyelination? Am J Neuroradiol 2003;24:819-24.
    • (2003) Am J Neuroradiol , vol.24 , pp. 819-824
    • Schneider, J.1    Il’yansov, K.A.2    Boltshauser, E.3    Henniga, J.4    Martin, E.5
  • 35
    • 0344033744 scopus 로고    scopus 로고
    • Incidence of the mucopolysaccharidoses in western australia
    • Nelson J, Crowhurst J, Carey B, Greed L. Incidence of the mucopolysaccharidoses in Western Australia. Am J Med Genet 2003;123A:310-13.
    • (2003) Am J Med Genet , vol.123 , pp. 310-313
    • Nelson, J.1    Crowhurst, J.2    Carey, B.3    Greed, L.4
  • 36
    • 0024436561 scopus 로고
    • Diagnostic test for mucopolysaccharidosis. Ii. Rapid quantification of glycosaminoglycan in urine samples collected on a paper matrix
    • Whitley C, Draper KA, Dutton CM, Brown PA, Severson SL, France LA. Diagnostic test for mucopolysaccharidosis. II. Rapid quantification of glycosaminoglycan in urine samples collected on a paper matrix. Clin Chem 1989;35:2074-81.
    • (1989) Clin Chem , vol.35 , pp. 2074-2081
    • Whitley, C.1    Draper, K.A.2    Dutton, C.M.3    Brown, P.A.4    Severson, S.L.5    France, L.A.6
  • 37
    • 0000869162 scopus 로고    scopus 로고
    • The mucopolysaccharidoses
    • Scriver CR, Beaudet AL, Sly WS, Valle D, eds., New York: McGraw-Hill
    • Neufeld EF, Muenzer J. The mucopolysaccharidoses. In Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease. New York: McGraw-Hill; 2001: 3421-52.
    • (2001) The Metabolic and Molecular Bases of Inherited Disease , pp. 3421-3452
    • Neufeld, E.F.1    Muenzer, J.2
  • 38
    • 2442761347 scopus 로고    scopus 로고
    • The mucopolysaccharidoses
    • Moser HW, ed., Amsterdam: Elsevier
    • Whitley CB. The mucopolysaccharidoses. In Moser HW, ed. Neurodystrophies and Neurolipidoses, vol. 22 of Handbook of Clinical Neurology. Amsterdam: Elsevier; 1996: 281-328.
    • (1996) Neurodystrophies and Neurolipidoses , vol.22 , pp. 281-328
    • Whitley, C.B.1
  • 39
    • 2342589511 scopus 로고    scopus 로고
    • The mucopolysaccharidoses: A heterogeneous group of disorders with variable pediatric presentations
    • Muenzer J. The mucopolysaccharidoses: a heterogeneous group of disorders with variable pediatric presentations. J Pediatr 2004;144:S27-34.
    • (2004) J Pediatr , vol.144 , pp. S27-S34
    • Muenzer, J.1
  • 44
    • 0029143678 scopus 로고
    • Microglia: The effector cell for reconstitution of the central nervous system following bone marrow transplantation for lysosomal and peroxisomal storage diseases
    • Krivit W, Sung J, Shapiro E, Lockman L. Microglia: the effector cell for reconstitution of the central nervous system following bone marrow transplantation for lysosomal and peroxisomal storage diseases. Cell Transpl 1995;4:385-92.
    • (1995) Cell Transpl , vol.4 , pp. 385-392
    • Krivit, W.1    Sung, J.2    Shapiro, E.3    Lockman, L.4
  • 45
    • 2342535103 scopus 로고    scopus 로고
    • Cord-blood transplants from unrelated donors in patients with hurler’s syndrome
    • Staba SL, Escolar ML, Poe M, Kim Y, Martin PL, Szabolcs P, et al. Cord-blood transplants from unrelated donors in patients with Hurler’s syndrome. NEngl J Med 2004;350:1960-9.
    • (2004) Nengl J Med , vol.350 , pp. 1960-1969
    • Staba, S.L.1    Escolar, M.L.2    Poe, M.3    Kim, Y.4    Martin, P.L.5    Szabolcs, P.6
  • 46
    • 10744223978 scopus 로고    scopus 로고
    • Outcome of 27 patients with hurler’s syndrome transplanted from either related or unrelated haematopoietic stem cell sources
    • Souillet G, Guffon N, Maire I, Pujol M, Taylor P, Sevin F, et al. Outcome of 27 patients with Hurler’s syndrome transplanted from either related or unrelated haematopoietic stem cell sources. Bone Marrow Transpl 2003;31:1105-17.
    • (2003) Bone Marrow Transpl , vol.31 , pp. 1105-1117
    • Souillet, G.1    Guffon, N.2    Maire, I.3    Pujol, M.4    Taylor, P.5    Sevin, F.6
  • 47
    • 41549136110 scopus 로고    scopus 로고
    • Combination of enzyme replacement and hematopoietic stem cell transplantation as therapy for hurler syndrome
    • Tolar J, Grewal S, Bjoraker K, Whitley C, Shapiro E, Charnas L, Orchard P. Combination of enzyme replacement and hematopoietic stem cell transplantation as therapy for Hurler syndrome. Bone Marrow Transpl 2007;41:531-5.
    • (2007) Bone Marrow Transpl , vol.41 , pp. 531-535
    • Tolar, J.1    Grewal, S.2    Bjoraker, K.3    Whitley, C.4    Shapiro, E.5    Charnas, L.6    Orchard, P.7
  • 48
    • 34447121276 scopus 로고    scopus 로고
    • Enzyme replacement therapy for mucopolysaccharidosis i patients less than 5 years old: Results of a multinational study of recombinant human alpha-l-iduronidase (laronidase)
    • Wraith JE, Beck M, Lane R, vander Ploeg A, Shapiro E, Guffon, N. Enzyme replacement therapy for mucopolysaccharidosis I patients less than 5 years old: results of a multinational study of recombinant human alpha-L-iduronidase (laronidase). Pediatrics 2007;120: e37-46.
    • (2007) Pediatrics , vol.120 , pp. e37-e46
    • Wraith, J.E.1    Beck, M.2    Lane, R.3    Vander Ploeg, A.4    Shapiro, E.5    Guffon, N.6
  • 49
    • 4444287601 scopus 로고    scopus 로고
    • Brain mri findings in patients with mucopolysaccharidosis types i and ii and mild clinical presentation
    • Matheus G, 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;46:666-72.
    • (2004) Neuroradiology , vol.46 , pp. 666-672
    • Matheus, G.1    Castillo, M.2    Smith, J.K.3    Armao, D.4    Towle, D.5    Muenzer, J.6
  • 50
    • 2942672495 scopus 로고    scopus 로고
    • Secondary accumulation of gangliosides in lysosomal storage disorders
    • Walkley SU. Secondary accumulation of gangliosides in lysosomal storage disorders. Semin Cell Dev Biol 2004;15:433-44.
    • (2004) Semin Cell Dev Biol , vol.15 , pp. 433-444
    • Walkley, S.U.1
  • 53
    • 22944466392 scopus 로고    scopus 로고
    • Clinical presentation and follow-up of patients with the attenuated phenotype of mucopolysaccharidosis type i
    • Vijay S, Wraith JE. Clinical presentation and follow-up of patients with the attenuated phenotype of mucopolysaccharidosis type I. Acta Paediatr 2005;94:872-7.
    • (2005) Acta Paediatr , vol.94 , pp. 872-877
    • Vijay, S.1    Wraith, J.E.2
  • 57
    • 4944239910 scopus 로고    scopus 로고
    • Intrathecal enzyme replacement therapy reduces lysosomal storage in the brain and meninges of the canine model of mps i
    • Kakkis E, McEntee M, Vogler C, Le S, Levy B, Belichenko P, Passage M. et al. Intrathecal enzyme replacement therapy reduces lysosomal storage in the brain and meninges of the canine model of MPS I. Mol Gen Metab 2004;83:163-74.
    • (2004) Mol Gen Metab , vol.83 , pp. 163-174
    • Kakkis, E.1    McEntee, M.2    Vogler, C.3    Le, S.4    Levy, B.5    Belichenko, P.6    Passage, M.7
  • 59
    • 33747209013 scopus 로고    scopus 로고
    • A phase ii/iii clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis ii (Hunter syndrome)
    • Muenzer J, Wraith JE, Beck M, Giugliani R, Harmatz P, Eng C, et al. A phase II/III clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis II (Hunter syndrome). Gen Med 2006;8:465-73.
    • (2006) Gen Med , vol.8 , pp. 465-473
    • Muenzer, J.1    Wraith, J.E.2    Beck, M.3    Giugliani, R.4    Harmatz, P.5    Eng, C.6
  • 60
    • 0032719681 scopus 로고    scopus 로고
    • Clinical and neuroradiological follow-up in mucopolysaccharidosis type iii (Sanfilippo syndrome)
    • Barone R, Nigro F, Triulzi F, Musumeci S, Fiumara A, Pavone L. Clinical and neuroradiological follow-up in mucopolysaccharidosis type III (Sanfilippo syndrome). Neuropediatrics 1999;30:270-4.
    • (1999) Neuropediatrics , pp. 270-274
    • Barone, R.1    Nigro, F.2    Triulzi, F.3    Musumeci, S.4    Fiumara, A.5    Pavone, L.6
  • 63
    • 0029013710 scopus 로고
    • Poor cognitive outcome of nine children with sanfilippo syndrome following after bone marrow transplantation and successful engraftment
    • Klein K, Krivit W, Whitley C, Peters C, Cool VA, Fuhrman M, et al. Poor cognitive outcome of nine children with Sanfilippo Syndrome following after bone marrow transplantation and successful engraftment. Bone Marrow Transpl 1995;15:S17681.
    • (1995) Bone Marrow Transpl , vol.15 , pp. S17681
    • Klein, K.1    Krivit, W.2    Whitley, C.3    Peters, C.4    Cool, V.A.5    Fuhrman, M.6
  • 64
    • 33744978567 scopus 로고    scopus 로고
    • Enzyme replacement therapy for mucopolysaccharidosis vi: A phase 3, randomized, double-blind, placebo-controlled, multinational study of recombinant human n-acetylgalactosamine 4-sulfatase (recombinant human arylsulfatase b or rhasb) and follow-on, open-label extension study. Mps vi phase 3 study group
    • Harmatz P, Giugliani R, Schwartz I, Guffon N, Teles EL, Miranda MC, et al. Enzyme replacement therapy for mucopolysaccharidosis VI: a phase 3, randomized, double-blind, placebo-controlled, multinational study of recombinant human N-acetylgalactosamine 4-sulfatase (recombinant human arylsulfatase B or rhASB) and follow-on, open-label extension study. MPS VI Phase 3 Study Group. J Pediatr 2006;148:533-9.
    • (2006) J Pediatr , vol.148 , pp. 533-539
    • Harmatz, P.1    Giugliani, R.2    Schwartz, I.3    Guffon, N.4    Teles, E.L.5    Miranda, M.C.6
  • 65
    • 0030860131 scopus 로고    scopus 로고
    • Adrenoleukodystrophy: Phenotype, genetics, pathogenesis and therapy
    • Moser HW. Adrenoleukodystrophy: phenotype, genetics, pathogenesis and therapy. Brain 1997;120:1485-508.
    • (1997) Brain , vol.120 , pp. 1485-1508
    • Moser, H.W.1
  • 67
    • 0026507316 scopus 로고
    • Very-late-onset adrenoleukodystrophy: Possible precipitation of demyelination by cerebral contusion
    • Weller M, Liedtke W, Petersen D, Opitz H, Poremba M. Very-late-onset adrenoleukodystrophy: possible precipitation of demyelination by cerebral contusion. Neurology 1992;42:367-70.
    • (1992) Neurology , vol.42 , pp. 367-370
    • Weller, M.1    Liedtke, W.2    Petersen, D.3    Opitz, H.4    Poremba, M.5
  • 68
    • 0029146242 scopus 로고
    • Neuropsychological outcomes in several storage diseases with and without bone marrow transplantation
    • Shapiro E, Lockman L, Balthazor M, Krivit W. Neuropsychological outcomes in several storage diseases with and without bone marrow transplantation. J Inherit Metab Dis 1995;18:413-29.
    • (1995) J Inherit Metab Dis , vol.18 , pp. 413-429
    • Shapiro, E.1    Lockman, L.2    Balthazor, M.3    Krivit, W.4
  • 71
    • 84889111211 scopus 로고
    • Predicting dementia in white matter disease: Magnetic resonance imaging, magnetic resonance spectroscopy, and neuropsychology (abstract)
    • Balthazor M, Rajanayagam V, Shapiro, E, Loes D, Stillman, A, Lockman, L et al. Predicting dementia in white matter disease: magnetic resonance imaging, magnetic resonance spectroscopy, and neuropsychology (Abstract). Ann Neurol 1995;40;290.
    • (1995) Ann Neurol , vol.40 , pp. 290
    • Balthazor, M.1    Rajanayagam, V.2    Shapiro, E.3    Loes, D.4    Stillman, A.5    Lockman, L.6
  • 73
    • 0037840812 scopus 로고    scopus 로고
    • Diffusion tensor imaging in cases of adrenoleukodystrophy: Preliminary experience as a marker for early demyelination?
    • Schneider JF, Il’yansov KA, Boltshauser E, Hennig J, Martin E. Diffusion tensor imaging in cases of adrenoleukodystrophy: preliminary experience as a marker for early demyelination? Am J Neuroradiol 2003;24:819-24.
    • (2003) Am J Neuroradiol , vol.24 , pp. 819-824
    • Schneider, J.F.1    Il’yansov, K.A.2    Boltshauser, E.3    Hennig, J.4    Martin, E.5
  • 75
    • 0037338339 scopus 로고    scopus 로고
    • Liu, s-l insights into the diagnosis and treatment of lysosomal storage diseases
    • Wenger DA, Coppola S, Liu, S-L Insights into the diagnosis and treatment of lysosomal storage diseases. Arch Neurol 2003;60:322-8.
    • (2003) Arch Neurol , vol.60 , pp. 322-328
    • Wenger, D.A.1    Coppola, S.2
  • 76
    • 0028336642 scopus 로고
    • Characteristics of the dementia in late-onset metachromatic leukodystrophy
    • Shapiro E, Lockman, LA, Knopman D, Krivit, W. Characteristics of the dementia in late-onset metachromatic leukodystrophy. Neurology 1994;44;662-5.
    • (1994) Neurology , vol.44 , pp. 662-665
    • Shapiro, E.1    Lockman, L.A.2    Knopman, D.3    Krivit, W.4
  • 77
    • 0026517334 scopus 로고
    • Psychiatric disturbances in metachromatic leukodystrophy
    • Hyde TM, Ziegler JC, Weinberger DR. Psychiatric disturbances in metachromatic leukodystrophy. Arch Neurol 1992;49:401-6.
    • (1992) Arch Neurol , vol.49 , pp. 401-406
    • Hyde, T.M.1    Ziegler, J.C.2    Weinberger, D.R.3
  • 79
    • 0028005407 scopus 로고
    • Presymptomatic late-infantile metachromatic leukodystrophy treated with bone marrow transplantation
    • Pridjian G, Humbert J, Willis J, Shapiro E. Presymptomatic late-infantile metachromatic leukodystrophy treated with bone marrow transplantation. J Pediatr 1994;l2J:755-8.
    • (1994) J Pediatr , vol.12 , pp. 755-758
    • Pridjian, G.1    Humbert, J.2    Willis, J.3    Shapiro, E.4
  • 80
    • 0029933843 scopus 로고    scopus 로고
    • Late juvenile metachromatic leukodystrophy treated with bone marrow transplantation; a 4-year follow-up study
    • Navarro C, Fernandez JM, Dominguez C, Fachal C, Alvarez M. Late juvenile metachromatic leukodystrophy treated with bone marrow transplantation; a 4-year follow-up study. Neurology 1996;46:254-6.
    • (1996) Neurology , vol.46 , pp. 254-256
    • Navarro, C.1    Fernandez, J.M.2    Dominguez, C.3    Fachal, C.4    Alvarez, M.5
  • 81
    • 0026670348 scopus 로고
    • White matter dysfunction and its neuropsychological correlates: A longitudinal study of a case of metachromatic leukodystrophy treated with bone marrow transplant
    • Shapiro E, Lipton M, Krivit W. White matter dysfunction and its neuropsychological correlates: a longitudinal study of a case of metachromatic leukodystrophy treated with bone marrow transplant. J Clin Exp Neuropsychol 1992;14:610-24.
    • (1992) J Clin Exp Neuropsychol , vol.14 , pp. 610-624
    • Shapiro, E.1    Lipton, M.2    Krivit, W.3
  • 82
    • 0002043462 scopus 로고    scopus 로고
    • Krabbe disease (Globoid cell leukodystrophy)
    • Rosenberg RN, Prusiner SB, DiMauro S, Barchi RL, eds., Boston, MA: Butterworth- Heinemann
    • Wenger DA. Krabbe disease (globoid cell leukodystrophy). In Rosenberg RN, Prusiner SB, DiMauro S, Barchi RL, eds. The Molecular and Genetic Basis ofNeurological Disease. Boston, MA: Butterworth- Heinemann; 1997: 421-31.
    • (1997) The Molecular and Genetic Basis Ofneurological Disease , pp. 421-431
    • Wenger, D.A.1
  • 83
    • 0009811676 scopus 로고    scopus 로고
    • Globoid leukodystrophy
    • Moser HW, ed., Amsterdam: Elsevier
    • Kolodny EH. Globoid leukodystrophy. In Moser HW, ed. Neurodystrophies and Neurolipidoses, vol. 66 of Handbook ofClinical Neurology. Amsterdam: Elsevier; 1996: 187-210.
    • (1996) Neurodystrophies and Neurolipidoses , vol.66 , pp. 187-210
    • Kolodny, E.H.1
  • 84
    • 20844453744 scopus 로고    scopus 로고
    • Transplantation of umbilical-cord blood in babies with infantile krabbe’s disease
    • Escolar ML, Poe MD, Provenzale JM, et al. Transplantation of umbilical-cord blood in babies with infantile Krabbe’s disease. N Engl J Med 2005;352:2069-81.
    • (2005) N Engl J Med , vol.352 , pp. 2069-2081
    • Escolar, M.L.1    Poe, M.D.2    Provenzale, J.M.3
  • 85
    • 33749069129 scopus 로고    scopus 로고
    • A staging system for infantile krabbe disease to predict outcome after unrelated umbilical cord blood transplantation
    • Escolar ML, Poe MD, Martin HR, Kurtzberg J. A staging system for infantile Krabbe disease to predict outcome after unrelated umbilical cord blood transplantation. Pediatrics 2006;118:e879-89.
    • (2006) Pediatrics , vol.118 , pp. e879-e889
    • Escolar, M.L.1    Poe, M.D.2    Martin, H.R.3    Kurtzberg, J.4
  • 87
    • 0033585476 scopus 로고    scopus 로고
    • Carey, wf prevalence of lysosomal storage disorders
    • Meikle PJ, Hopwood JJ, Clague AE, Carey, WF Prevalence of lysosomal storage disorders. J Am Med Assoc 1999;281:249-54.
    • (1999) J am Med Assoc , vol.281 , pp. 249-254
    • Meikle, P.J.1    Hopwood, J.J.2    Clague, A.E.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.