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Volumn 5, Issue 4, 2009, Pages 319-321

Progression of organ manifestations upon enzyme replacement therapy in a patient with mucopolysaccharidosis type I/Hurler

Author keywords

Hurler disease; Laronidase; Mucopolysaccharidosis type I

Indexed keywords

DIPHENHYDRAMINE; GLYCOSAMINOGLYCAN; IBUPROFEN; LARONIDASE; LEVO IDURONIDASE;

EID: 73349114336     PISSN: 17088569     EISSN: None     Source Type: Journal    
DOI: 10.1007/s12519-009-0062-x     Document Type: Article
Times cited : (12)

References (10)
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    • Neufeld EF, Muenzer J. The mucopolysaccharidoses. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The metabolic & molecular bases of inherited disease. New York: McGraw-Hill, 2001: 3421-3452.
    • (2001) The Metabolic & Molecular Bases of Inherited Disease , pp. 3421-3452
    • Neufeld, E.F.1    Muenzer, J.2
  • 4
    • 20944443759 scopus 로고    scopus 로고
    • Safety and efficacy of enzyme replacement therapy in combination with hematopoietic stem cell transplantation in Hurler syndrome
    • 1:CAS:528:DC%2BD2MXhtl2mtLs%3D 15714083
    • S.S. Grewal R. Wynn J.E. Abdenur B.K. Burton M. Gharib C. Haase, et al. 2005 Safety and efficacy of enzyme replacement therapy in combination with hematopoietic stem cell transplantation in Hurler syndrome Genet Med 7 143 146 1:CAS:528:DC%2BD2MXhtl2mtLs%3D 15714083
    • (2005) Genet Med , vol.7 , pp. 143-146
    • Grewal, S.S.1    Wynn, R.2    Abdenur, J.E.3    Burton, B.K.4    Gharib, M.5    Haase, C.6
  • 5
    • 0027018480 scopus 로고
    • Alpha-L-iduronidase mutations (Q70X and P533R) associate with a severe Hurler phenotype
    • 10.1002/humu.1380010412 1:CAS:528:DyaK3sXhsVGis7w%3D 1301941
    • H.S. Scott T. Litjens P.V. Nelson D.A. Brooks J.J. Hopwood C.P. Morris 1992 alpha-L-iduronidase mutations (Q70X and P533R) associate with a severe Hurler phenotype Hum Mutat 1 333 339 10.1002/humu.1380010412 1:CAS:528:DyaK3sXhsVGis7w%3D 1301941
    • (1992) Hum Mutat , vol.1 , pp. 333-339
    • Scott, H.S.1    Litjens, T.2    Nelson, P.V.3    Brooks, D.A.4    Hopwood, J.J.5    Morris, C.P.6
  • 7
    • 33745943855 scopus 로고    scopus 로고
    • Cardiac Findings After Enzyme Replacement Therapy for Mucopolysaccharidosis Type I
    • DOI 10.1016/j.amjcard.2006.02.047, PII S0002914906007314
    • E.A. Braunlin J.M. Berry C.B. Whitley 2006 Cardiac findings after enzyme replacement therapy for mucopolysaccharidosis type I Am J Cardiol 98 416 418 10.1016/j.amjcard.2006.02.047 1:CAS:528:DC%2BD28XntVWjtrw%3D 16860035 (Pubitemid 44062452)
    • (2006) American Journal of Cardiology , vol.98 , Issue.3 , pp. 416-418
    • Braunlin, E.A.1    Berry, J.M.2    Whitley, C.B.3
  • 8
    • 34249011209 scopus 로고    scopus 로고
    • Enzyme replacement therapy in two patients with an advanced severe (Hurler) phenotype of mucopolysaccharidosis I
    • DOI 10.1007/s00431-006-0316-8
    • V. Tokic I. Barisic N. Huzjak G. Petkovic K. Fumic E. Paschke 2007 Enzyme replacement therapy in two patients with an advanced severe (Hurler) phenotype of mucopolysaccharidosis I Eur J Pediatr 166 727 732 10.1007/s00431-006-0316-8 17043838 (Pubitemid 46800739)
    • (2007) European Journal of Pediatrics , vol.166 , Issue.7 , pp. 727-732
    • Tokic, V.1    Barisic, I.2    Huzjak, N.3    Petkovic, G.4    Fumic, K.5    Paschke, E.6
  • 9
    • 34547906935 scopus 로고    scopus 로고
    • Outcome after three years of laronidase enzyme replacement therapy in a patient with Hurler syndrome
    • 10.1007/s10545-006-0457-y 1:STN:280:DC%2BD28nnvVagtQ%3D%3D 17089217
    • J.A. Thomas S. Jacobs J. Kierstein J. Van Hove 2006 Outcome after three years of laronidase enzyme replacement therapy in a patient with Hurler syndrome J Inherit Metab Dis 29 762 10.1007/s10545-006-0457-y 1:STN:280: DC%2BD28nnvVagtQ%3D%3D 17089217
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.