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Volumn 13, Issue 6, 2013, Pages 382-385

Niemann-pick type C: A potentially treatable disorder?

Author keywords

[No Author keywords available]

Indexed keywords

1 DEOXYNOJIRIMYCIN; DRUG DERIVATIVE; ENZYME INHIBITOR; MIGLUSTAT;

EID: 84887518577     PISSN: 14747758     EISSN: 14747766     Source Type: Journal    
DOI: 10.1136/practneurol-2013-000525     Document Type: Article
Times cited : (10)

References (14)
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  • 2
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    • Der Morbus Gaucher und die ihm ahnlichen krankheiten
    • Pick L. Der Morbus Gaucher und die ihm ahnlichen krankheiten. Ergeb Inn Med Kinderheilkd 1926;29:519-627.
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  • 3
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    • The cerebral defect in Tay-Sachs disease and Niemann-Pick disease
    • Crocker AC. The cerebral defect in Tay-Sachs disease and Niemann-Pick disease. J Neurochem 1961;7:69-80.
    • (1961) J Neurochem , vol.7 , pp. 69-80
    • Crocker, A.C.1
  • 4
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    • Prevalence of lysosomal storage disorders
    • Meikle PJ, Hopwood JJ, Clague AE, et al. Prevalence of lysosomal storage disorders. JAMA 1999;281:249.
    • (1999) JAMA , vol.281 , pp. 249
    • Meikle, P.J.1    Hopwood, J.J.2    Clague, A.E.3
  • 6
    • 0000831301 scopus 로고    scopus 로고
    • Niemann-Pick disease type C; a lipid trafficking disorder
    • In: Scriver CR, Beaudet AL, Sly WS, et al. eds., 8th edn. New York: Mc Graw Hill
    • Patterson MC, Vanier MT, Suzuki K, et al. Niemann-Pick disease type C; a lipid trafficking disorder. In: Scriver CR, Beaudet AL, Sly WS, et al. eds. The metabolic and molecular bases of inherited disease. 8th edn. New York: Mc Graw Hill, 2001:3611-34.
    • (2001) The Metabolic and Molecular Bases of Inherited Disease , pp. 3611-3634
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  • 7
    • 67849098806 scopus 로고    scopus 로고
    • Recommendations on the diagnosis and management of Niemann-Pick disease type C
    • Wraith JE, Baumgartner MR, Bembi B, et al. Recommendations on the diagnosis and management of Niemann-Pick disease type C. Mol Genet Metab 2009;98:152-65.
    • (2009) Mol Genet Metab , vol.98 , pp. 152-165
    • Wraith, J.E.1    Baumgartner, M.R.2    Bembi, B.3
  • 8
    • 0024459132 scopus 로고
    • Clinical spectrum of Niemann-Pick disease type C
    • Fink JK, Filling-Katz MR, Sokol J, et al. Clinical spectrum of Niemann-Pick disease type C. Neurology 1989;39:1040.
    • (1989) Neurology , vol.39 , pp. 1040
    • Fink, J.K.1    Filling-Katz, M.R.2    Sokol, J.3
  • 9
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    • The clinical spectrum of fetal Niemann-Pick type C
    • Spiegel R, Raas-Rothschild A, Reish O, et al. The clinical spectrum of fetal Niemann-Pick type C. Am J Med Genet A 2009;149A:446-50.
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  • 10
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    • Storch, J.1    Xu, Z.2
  • 11
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    • Treatment with miglustat reverses the lipid-trafficking defect in Niemann-Pick disease type C
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.