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Volumn 32, Issue SUPPL. 1, 2009, Pages 321-325

Scheie syndrome: Enzyme replacement therapy does not prevent progression of cervical myelopathy due to spinal cord compression

Author keywords

[No Author keywords available]

Indexed keywords

LEVO IDURONIDASE;

EID: 84881016898     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-009-1265-y     Document Type: Article
Times cited : (16)

References (36)
  • 1
    • 33745099961 scopus 로고    scopus 로고
    • Trends in haematopoietic cell transplantation for inborn errors of metabolism
    • Boelens JJ (2006) Trends in haematopoietic cell transplantation for inborn errors of metabolism. J Inherit Metab Dis 292-3:413-420
    • (2006) J Inherit Metab Dis , vol.292-293 , pp. 413-420
    • Boelens, J.J.1
  • 2
    • 0035499168 scopus 로고    scopus 로고
    • Coronary artery patency following long-term successful engraftment 14 years after bone marrow transplantation in the hurler syndrome
    • DOI 10.1016/S0002-9149(01)01999-3, PII S0002914901019993
    • Braunlin EA, Rose AG, Hopwood JJ et al. (2001) Coronary artery patency following long-term successful engraftment 14 years after bone marrow transplantation in the Hurler syndrome. Am J Cardiol 889:1075-1077 (Pubitemid 33042633)
    • (2001) American Journal of Cardiology , vol.88 , Issue.9 , pp. 1075-1077
    • Braunlin, E.A.1    Rose, A.G.2    Hopwood, J.J.3    Candel, R.D.4    Krivit, W.5
  • 5
    • 33750627775 scopus 로고    scopus 로고
    • Ocular findings in four children with mucopolysaccharidosis I-Hurler (MPS I-H) treated early with haematopoietic stem cell transplantation
    • DOI 10.1111/j.1600-0420.2006.00743.x
    • Fahnehjelm KT, Tornquist AL, Malm G et al. (2006) Ocular findings in four children with mucopolysaccharidosis IHurler (MPS I-H) treated early with haematopoietic stem cell transplantation. Acta Ophthalmol Scand 846:781-785 (Pubitemid 44688328)
    • (2006) Acta Ophthalmologica Scandinavica , vol.84 , Issue.6 , pp. 781-785
    • Fahnehjelm, K.T.1    Tornquist, A.-L.2    Malm, G.3    Winiarski, J.4
  • 9
    • 0031834971 scopus 로고    scopus 로고
    • Ocular abnormalities in the mucopolysaccharidoses after bone marrow transplantation. Longer follow-up
    • DOI 10.1016/S0161-6420(98)96014-6
    • Gullingsrud EO, Krivit W, Summers CG (1998) Ocular abnormalities in the mucopolysaccharidoses after bone marrow transplantation. Longer follow-up. Ophthalmology 1056:1099-1105 (Pubitemid 28268337)
    • (1998) Ophthalmology , vol.105 , Issue.6 , pp. 1099-1105
    • Gullingsrud, E.O.1    Krivit, W.2    Summers, C.G.3
  • 10
    • 0019466750 scopus 로고
    • Reversal of clinical features of Hurler's disease and biochemical improvement after treatment by bone-marrow transplantation
    • Hobbs JR,Hugh-JonesK, Barrett AJ et al. (1981) Reversal of clinical features of Hurler's disease and biochemical improvement after treatment by bone-marrow transplantation. Lancet 28249:709-712 (Pubitemid 11061090)
    • (1981) Lancet , vol.2 , Issue.8249 , pp. 709-712
    • Hobbs, J.R.1    Hugh-Jones, K.2    Barrett, A.J.3
  • 11
    • 25144442267 scopus 로고    scopus 로고
    • Storage solutions: Treating lysosomal disorders of the brain
    • DOI 10.1038/nrn1725, PII NRN1725
    • Jeyakumar M, Dwek RA, Butters TD et al. (2005) Storage solutions: treating lysosomal disorders of the brain. Nat Rev Neurosci 69:713-725 (Pubitemid 44773245)
    • (2005) Nature Reviews Neuroscience , vol.6 , Issue.9 , pp. 713-725
    • Jeyakumar, M.1    Dwek, R.A.2    Butters, T.D.3    Platt, F.M.4
  • 12
    • 0034526062 scopus 로고    scopus 로고
    • Mucopolysaccharidoses and spinal cord compression: Case report and review of the literature with implications of bone marrow transplantation
    • discussion 228-229
    • Kachur E, Del Maestro R (2000) Mucopolysaccharidoses and spinal cord compression: case report and review of the literature with implications of bone marrow transplantation. Neurosurgery 471:223-228; discussion 228-229
    • (2000) Neurosurgery , vol.471 , pp. 223-228
    • Kachur, E.1    Del Maestro, R.2
  • 13
    • 0035905889 scopus 로고    scopus 로고
    • Enzymereplacement therapy in mucopolysaccharidosis I
    • Kakkis ED, Muenzer J, Tiller GE et al. (2001) Enzymereplacement therapy in mucopolysaccharidosis I. N Engl J Med 3443:182-188
    • (2001) N Engl J Med , vol.3443 , pp. 182-188
    • Kakkis, E.D.1    Muenzer, J.2    Tiller, G.E.3
  • 15
    • 17044455442 scopus 로고    scopus 로고
    • Cervical cord compression in an elderly patient with Hurler's syndrome: A case report
    • Khan SA, Sehat K, Calthorpe D (2003) Cervical cord compression in an elderly patient with Hurler's syndrome: a case report. Spine (Phila Pa 1976) 2816:E313-315
    • (2003) Spine (Phila Pa 1976) , vol.2816
    • Khan, S.A.1    Sehat, K.2    Calthorpe, D.3
  • 16
    • 0036676009 scopus 로고    scopus 로고
    • Allogeneic mesenchymal stem cell infusion for treatment of metachromatic leukodystrophy (MLD) and Hurler syndrome (MPS-IH)
    • DOI 10.1038/sj.bmt.1703650
    • Koc ON, Day J, Nieder M et al. (2002) Allogeneic mesenchymal stem cell infusion for treatment of metachromatic leukodystrophy (MLD) and Hurler syndrome (MPS-IH). Bone Marrow Transplant 304:215-222 (Pubitemid 35023593)
    • (2002) Bone Marrow Transplantation , vol.30 , Issue.4 , pp. 215-222
    • Koc, O.N.1    Day, J.2    Nieder, M.3    Gerson, S.L.4    Lazarus, H.M.5    Krivit, W.6
  • 17
    • 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 JH, Shapiro EG et al. (1995) Microglia: the effector cell for reconstitution of the central nervous system following bone marrow transplantation for lysosomal and peroxisomal storage diseases. Cell Transplant 44:385-392
    • (1995) Cell Transplant , vol.44 , pp. 385-392
    • Krivit, W.1    Sung, J.H.2    Shapiro, E.G.3
  • 20
    • 55449114459 scopus 로고    scopus 로고
    • Intrathecal enzyme replacement therapy in a patient with mucopolysaccharidosis type I and symptomatic spinal cord compression
    • Munoz-Rojas MV, Vieira T, Costa R et al. (2008) Intrathecal enzyme replacement therapy in a patient with mucopolysaccharidosis type I and symptomatic spinal cord compression. Am J Med Genet A 146A19:2538-2544
    • (2008) Am J Med Genet A , vol.146 A19 , pp. 2538-2544
    • Munoz-Rojas, M.V.1    Vieira, T.2    Costa, R.3
  • 21
    • 0000869162 scopus 로고    scopus 로고
    • The mucopolysaccharidoses
    • Scriver CR, Beaudet AL, Sly WS, Valle D (eds) 8th edn. McGraw-Hill, New York
    • Neufeld EF, Muenzer J (2001) The mucopolysaccharidoses. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic and molecular basis of inherited diseases, 8th edn. McGraw-Hill, New York,3421-3452
    • (2001) The Metabolic and Molecular Basis of Inherited Diseases , pp. 3421-3452
    • Neufeld, E.F.1    Muenzer, J.2
  • 24
    • 0032198225 scopus 로고    scopus 로고
    • Neuropsychological development in children with Hurler syndrome following hematopoietic stem cell transplantation
    • Peters C, Shapiro EG, Krivit W (1998b) Neuropsychological development in children with Hurler syndrome following hematopoietic stem cell transplantation. Pediatr Transplant 24:250-253
    • (1998) Pediatr Transplant , vol.24 , pp. 250-253
    • Peters, C.1    Shapiro, E.G.2    Krivit, W.3
  • 25
    • 0028841213 scopus 로고
    • Molecular genetics of mucopolysaccharidosis type I: Diagnostic, clinical, and biological implications
    • Scott HS, Bunge S, Gal A et al. (1995) Molecular genetics of mucopolysaccharidosis type I: diagnostic, clinical, and biological implications. Hum Mutat 64:288-302
    • (1995) Hum Mutat , vol.64 , pp. 288-302
    • Scott, H.S.1    Bunge, S.2    Gal, A.3
  • 26
    • 0029146242 scopus 로고
    • Neuropsychological outcomes of several storage diseases with and without bone marrow transplantation
    • Shapiro EG, Lockman LA, Balthazor M et al. (1995) Neuropsychological outcomes of several storage diseases with and without bone marrow transplantation. J Inherit Metab Dis 184:413-429
    • (1995) J Inherit Metab Dis , vol.184 , pp. 413-429
    • Shapiro, E.G.1    Lockman, L.A.2    Balthazor, M.3
  • 27
    • 0028568013 scopus 로고
    • Enzyme replacement in a canine model of Hurler syndrome
    • Shull RM, Kakkis ED, McEntee MF et al. (1994) Enzyme replacement in a canine model of Hurler syndrome. Proc Natl Acad Sci U S A 9126:12937-12941
    • (1994) Proc Natl Acad Sci U S a , vol.9126 , pp. 12937-12941
    • Shull, R.M.1    Kakkis, E.D.2    McEntee, M.F.3
  • 31
    • 34247557144 scopus 로고    scopus 로고
    • Negative ERGs in mucopolysaccharidoses (MPS) Hurler-Scheie (I-H/S) and Hurler (I-H)-syndromes
    • DOI 10.1007/s10633-007-9047-z
    • Tzetzi D, Hamilton R, Robinson PH et al. (2007) Negative ERGs in mucopolysaccharidoses (MPS) Hurler-Scheie (I-H/S) and Hurler (I-H)-syndromes. Doc Ophthalmol 1143:153-158 (Pubitemid 46681697)
    • (2007) Documenta Ophthalmologica , vol.114 , Issue.3 , pp. 153-158
    • Tzetzi, D.1    Hamilton, R.2    Robinson, P.H.3    Dutton, G.N.4
  • 33
    • 17144399564 scopus 로고    scopus 로고
    • The first 5 years of clinical experience with laronidase enzyme replacement therapy for mucopolysaccharidosis I
    • Wraith JE (2005) The first 5 years of clinical experience with laronidase enzyme replacement therapy for mucopolysaccharidosis I. Expert Opin Pharmacother 63:489-506
    • (2005) Expert Opin Pharmacother , vol.63 , pp. 489-506
    • Wraith, J.E.1
  • 35
    • 34447121276 scopus 로고    scopus 로고
    • Enzyme replacement therapy in patients who have mucopolysaccharidosis i and are younger than 5 years: Results of a multinational study of recombinant human alpha-L-iduronidase (laronidase)
    • DOI 10.1542/peds.2006-2156
    • Wraith JE, Beck M, Lane R et al. (2007) Enzyme replacement therapy in patients who have mucopolysaccharidosis I and are younger than 5 years: results of a multinational study of recombinant human alpha-L-iduronidase (laronidase). Pediatrics 1201:e37-46 (Pubitemid 47036214)
    • (2007) Pediatrics , vol.120 , Issue.1
    • Wraith, J.E.1    Beck, M.2    Lane, R.3    Van Der, P.A.4    Shapiro, E.5    Xue, Y.6    Kakkis, E.D.7    Guffon, N.8
  • 36
    • 4143144349 scopus 로고    scopus 로고
    • Identification and molecular characterization of alpha-L-iduronidase mutations present in mucopolysaccharidosis type I patients undergoing enzyme replacement therapy
    • DOI 10.1002/humu.20081
    • Yogalingam G, Guo XH, Muller VJ et al. (2004) Identification and molecular characterization of alpha-L-iduronidase mutations present in mucopolysaccharidosis type I patients undergoing enzyme replacement therapy. Hum Mutat 243:199-207 (Pubitemid 39095596)
    • (2004) Human Mutation , vol.24 , Issue.3 , pp. 199-207
    • Yogalingam, G.1    Guo, X.-H.2    Muller, V.J.3    Brooks, D.A.4    Clements, P.R.5    Kakkis, E.D.6    Hopwood, J.J.7


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.