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Volumn 22, Issue 1, 1999, Pages 84-86

An adult with a non-neuronopathic form of Niemann-Pick C disease

Author keywords

[No Author keywords available]

Indexed keywords

CHOLESTEROL; ESTERASE; FILIPIN; GLUCOSYLCERAMIDASE; LOW DENSITY LIPOPROTEIN; LYSOSOME ENZYME; SPHINGOMYELIN PHOSPHODIESTERASE;

EID: 0033055542     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1005463718823     Document Type: Article
Times cited : (21)

References (9)
  • 1
    • 0030863352 scopus 로고    scopus 로고
    • Niemann-Pick C1 disease gene: Homology to mediators of cholesterol homeostasis
    • Carstea ED, Morris JA, Coleman KG, et al (1997) Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis. Science 277: 228-231.
    • (1997) Science , vol.277 , pp. 228-231
    • Carstea, E.D.1    Morris, J.A.2    Coleman, K.G.3
  • 2
    • 0003263520 scopus 로고
    • Sphingomyelin lipidoses: Niemann-Pick disease
    • Stanbury JB, Wyngaarden JB, Fredrickson DS, eds. New York: McGraw-Hill
    • Fredrickson DS, Sloan HR (1972) Sphingomyelin lipidoses: Niemann-Pick disease. In Stanbury JB, Wyngaarden JB, Fredrickson DS, eds. The Metabolic Basis of Inherited Disease, 3rd edn. New York: McGraw-Hill, 783-807.
    • (1972) The Metabolic Basis of Inherited Disease, 3rd Edn. , pp. 783-807
    • Fredrickson, D.S.1    Sloan, H.R.2
  • 4
    • 0028330236 scopus 로고
    • Complementation studies in Niemann-Pick disease type C indicate the existence of a second group
    • Steinberg SJ, Ward CP, Fensom AH (1994) Complementation studies in Niemann-Pick disease type C indicate the existence of a second group. J Med Genet 31: 317-320.
    • (1994) J Med Genet , vol.31 , pp. 317-320
    • Steinberg, S.J.1    Ward, C.P.2    Fensom, A.H.3
  • 5
    • 0031983861 scopus 로고    scopus 로고
    • Recent advances in elucidating Niemann-Pick C disease
    • Vanier MT, Suzuki K (1998) Recent advances in elucidating Niemann-Pick C disease. Brain Pathol 8: 163-174.
    • (1998) Brain Pathol , vol.8 , pp. 163-174
    • Vanier, M.T.1    Suzuki, K.2
  • 6
    • 0025777970 scopus 로고
    • Type C Niemann-Pick disease: Spectrum of phenotypic variation in disruption of intracellular LDL-derived cholesterol processing
    • Vanier MT, Rodriguez-Lafrasse C, Rousson R, et al (1991a) Type C Niemann-Pick disease: spectrum of phenotypic variation in disruption of intracellular LDL-derived cholesterol processing. Biochim Biophys Acta 1096: 328-337.
    • (1991) Biochim Biophys Acta , vol.1096 , pp. 328-337
    • Vanier, M.T.1    Rodriguez-Lafrasse, C.2    Rousson, R.3
  • 7
    • 0026409287 scopus 로고
    • Type C Niemann-Pick disease: Biochemical aspects and phenotypic heterogeneity
    • Vanier MT, Rodriguez-Lafrasse C, Rousson R, et al (1991b) Type C Niemann-Pick disease: biochemical aspects and phenotypic heterogeneity. Dev Neurosci 13: 307-314.
    • (1991) Dev Neurosci , vol.13 , pp. 307-314
    • Vanier, M.T.1    Rodriguez-Lafrasse, C.2    Rousson, R.3
  • 9
    • 0029655528 scopus 로고    scopus 로고
    • Genetic heterogeneity in Niemann-Pick C disease: A study using somatic cell hybridization and linkage analysis
    • Vanier MT, Duthel S, Rodriguez-Lafrasse C, Pentchev P, Carstea ED (1996) Genetic heterogeneity in Niemann-Pick C disease: a study using somatic cell hybridization and linkage analysis. Am J Hum Genet 58: 118-125.
    • (1996) Am J Hum Genet , vol.58 , pp. 118-125
    • Vanier, M.T.1    Duthel, S.2    Rodriguez-Lafrasse, C.3    Pentchev, P.4    Carstea, E.D.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.