메뉴 건너뛰기




Volumn 23, Issue 1, 2008, Pages 124-128

Motion analysis of a child with Niemann-Pick disease type C treated with miglustat

Author keywords

Gait disorders; Miglustat; Motion analysis; Niemann Pick disease type C; Pediatric neurology

Indexed keywords

MIGLUSTAT;

EID: 39549107927     PISSN: 08853185     EISSN: 15318257     Source Type: Journal    
DOI: 10.1002/mds.21779     Document Type: Article
Times cited : (19)

References (17)
  • 1
    • 0000831301 scopus 로고    scopus 로고
    • Niemann-Pick disease type C: A lipid trafficking disorder
    • Scriver CT, Beaudet AL, Sly WS, Valle D, editors, New York: McGraw-Hill;
    • Patterson MC, Vanier MT, Suzuki K, et al. Niemann-Pick disease type C: a lipid trafficking disorder. In: Scriver CT, Beaudet AL, Sly WS, Valle D, editors. The metabolic and molecular bases of inherited disease. New York: McGraw-Hill; 2001. p 3611-3633.
    • (2001) The metabolic and molecular bases of inherited disease , pp. 3611-3633
    • Patterson, M.C.1    Vanier, M.T.2    Suzuki, K.3
  • 2
    • 0141886877 scopus 로고    scopus 로고
    • Niemann-Pick disease type C
    • Vanier MT, Millat G. Niemann-Pick disease type C. Clin Genet 2003;64:269-281.
    • (2003) Clin Genet , vol.64 , pp. 269-281
    • Vanier, M.T.1    Millat, G.2
  • 4
    • 33846412228 scopus 로고    scopus 로고
    • The natural history of Niemann-Pick disease type C in the UK
    • Imrie J, Dasgupta S, Besley GTN, et al. The natural history of Niemann-Pick disease type C in the UK. J Inherit Metab Dis 2007;30:51-59.
    • (2007) J Inherit Metab Dis , vol.30 , pp. 51-59
    • Imrie, J.1    Dasgupta, S.2    Besley, G.T.N.3
  • 5
    • 3242741280 scopus 로고    scopus 로고
    • Treatment with miglustat reverses the lipid-trafficking defect in Niemann-Pick disease type C
    • Lachmann RH, te Vruchte D, Lloyd-Evans E, et al. Treatment with miglustat reverses the lipid-trafficking defect in Niemann-Pick disease type C. Neurobiol Dis 2004;16:654-658.
    • (2004) Neurobiol Dis , vol.16 , pp. 654-658
    • Lachmann, R.H.1    te Vruchte, D.2    Lloyd-Evans, E.3
  • 6
    • 39549114511 scopus 로고    scopus 로고
    • Oral miglustat in adult and pediatric patients with Niemann-Pick type C (NPC) disease: Rationale, methodology, and interim analyses of a clinical study
    • Presented at the
    • Patterson MC, Vecchio D, Prady H, et al. Oral miglustat in adult and pediatric patients with Niemann-Pick type C (NPC) disease: rationale, methodology, and interim analyses of a clinical study. Presented at the annual meeting of the American Society of Human Genetics, 2005.
    • (2005) annual meeting of the American Society of Human Genetics
    • Patterson, M.C.1    Vecchio, D.2    Prady, H.3
  • 7
    • 0034728914 scopus 로고    scopus 로고
    • Novel treatment of Gaucher's disease with N-butyldeoxynojirimycin (OGT 918) to decrease substrate biosynthesis
    • Cox T, Lachmann R, Hollak C, et al. Novel treatment of Gaucher's disease with N-butyldeoxynojirimycin (OGT 918) to decrease substrate biosynthesis. Lancet 2000;355:1481-1485.
    • (2000) Lancet , vol.355 , pp. 1481-1485
    • Cox, T.1    Lachmann, R.2    Hollak, C.3
  • 8
    • 0035928841 scopus 로고    scopus 로고
    • Critical role for glycosphingolipids in Niemann-Pick disease type C
    • Zervas M, Somers KL, Thrall AM, Walkley SU. Critical role for glycosphingolipids in Niemann-Pick disease type C. Curr Biol 2001;11:1283-1287.
    • (2001) Curr Biol , vol.11 , pp. 1283-1287
    • Zervas, M.1    Somers, K.L.2    Thrall, A.M.3    Walkley, S.U.4
  • 10
    • 0002441570 scopus 로고    scopus 로고
    • Clinical gait analysis: Current methods and future directions
    • Harris G, Smith P, editors, Piscataway, NJ: IEEE Press;
    • Davis R, DeLuca P. Clinical gait analysis: current methods and future directions. In: Harris G, Smith P, editors. Human motion analysis: current applications and future directions. Piscataway, NJ: IEEE Press; 1996 p 17-42.
    • (1996) Human motion analysis: Current applications and future directions , pp. 17-42
    • Davis, R.1    DeLuca, P.2
  • 11
    • 0026040909 scopus 로고
    • Strategies for the assessment of pediatric gait in the clinical setting
    • Rose SA, Õunpuu S, DeLuca PA. Strategies for the assessment of pediatric gait in the clinical setting. Phys Ther 1991;71:961-980.
    • (1991) Phys Ther , vol.71 , pp. 961-980
    • Rose, S.A.1    Õunpuu, S.2    DeLuca, P.A.3
  • 12
    • 0025940083 scopus 로고
    • Three dimensional lower extremity joint kinetics in normal pediatric gait
    • Õunpuu S, Gage JR, Davis RB. Three dimensional lower extremity joint kinetics in normal pediatric gait. J Pediatr Orthop 1991;11:341-349.
    • (1991) J Pediatr Orthop , vol.11 , pp. 341-349
    • Õunpuu, S.1    Gage, J.R.2    Davis, R.B.3
  • 14
    • 39549104583 scopus 로고    scopus 로고
    • Newborg, J. BDI-2 Scoring Pro ™ [Computer Software, Battelle developmental inventory, 2nd ed. Itasca, IL: Riverside Publishing; 2005
    • Newborg, J. BDI-2 Scoring Pro ™ [Computer Software]. Battelle developmental inventory, 2nd ed. Itasca, IL: Riverside Publishing; 2005.
  • 16
    • 22144436233 scopus 로고    scopus 로고
    • Niemann-Pick type C disease in two affected sisters: Ocular motor recordings and brain-stem neuropathology
    • Solomon D, Winkleman AC, Zee DS, Gray L, Buttner-Ennever J. Niemann-Pick type C disease in two affected sisters: ocular motor recordings and brain-stem neuropathology. Ann NY Acad Sci 2005;1039:436-445.
    • (2005) Ann NY Acad Sci , vol.1039 , pp. 436-445
    • Solomon, D.1    Winkleman, A.C.2    Zee, D.S.3    Gray, L.4    Buttner-Ennever, J.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.