메뉴 건너뛰기




Volumn 20, Issue 2, 1998, Pages 95-97

Increased levels of GM2 ganglioside in fibroblasts from a patient with juvenile Niemann-Pick disease type C

Author keywords

Cholesterol; Foamy cells; GM2 ganglioside; Juvenile lipidosis; Niemann Pick disease type C (NPC)

Indexed keywords

CHOLESTEROL; FILIPIN; GANGLIOSIDE GM2; GLYCOLIPID; SPHINGOMYELIN PHOSPHODIESTERASE;

EID: 0031594198     PISSN: 03877604     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0387-7604(97)00113-7     Document Type: Article
Times cited : (32)

References (10)
  • 2
    • 0025962882 scopus 로고
    • Regional assignment of the human acid sphingomyelinase gene (SMPD1) by PCR analysis of somatic cell hybrids and in situ hybridization to 11p15.1-p15.4
    • Pereira L, Desnick R, Adler D, Disteche C, Schuchman E. Regional assignment of the human acid sphingomyelinase gene (SMPD1) by PCR analysis of somatic cell hybrids and in situ hybridization to 11p15.1-p15.4. Genomics 1991;9:229-234.
    • (1991) Genomics , vol.9 , pp. 229-234
    • Pereira, L.1    Desnick, R.2    Adler, D.3    Disteche, C.4    Schuchman, E.5
  • 3
    • 0027284022 scopus 로고
    • Type C. Niemann-Pick disease detection and quantification of cholesterol-accumulating cells in bone marrow
    • Tohyama J, Kato M, Koeda T, Ohno K. Type C. Niemann-Pick disease detection and quantification of cholesterol-accumulating cells in bone marrow. Brain Dev 1992;15:316-317.
    • (1992) Brain Dev , vol.15 , pp. 316-317
    • Tohyama, J.1    Kato, M.2    Koeda, T.3    Ohno, K.4
  • 4
    • 0021830120 scopus 로고
    • Niemann-Pick disease type C; study on the nature of the cerebral storage process
    • Elleder M, Jirásek A, Smid FJL, Besley GTN. Niemann-Pick disease type C; study on the nature of the cerebral storage process. Acta Neuropathol 1985;66:325-336.
    • (1985) Acta Neuropathol , vol.66 , pp. 325-336
    • Elleder, M.1    Jirásek, A.2    Smid, F.J.L.3    Besley, G.T.N.4
  • 6
    • 0023879638 scopus 로고
    • Niemann-Pick disease group C: Clinical variability and diagnosis based on defective cholesterol esterification; a collaborative study on 70 patients
    • Vanier M, Wenger D, Comly M, Rousson R, Brady R, Pentchev P. Niemann-Pick disease group C: clinical variability and diagnosis based on defective cholesterol esterification; a collaborative study on 70 patients. Clin Genet 1988;33:331-348.
    • (1988) Clin Genet , vol.33 , pp. 331-348
    • Vanier, M.1    Wenger, D.2    Comly, M.3    Rousson, R.4    Brady, R.5    Pentchev, P.6
  • 8
    • 0019490379 scopus 로고
    • Juvenile Niemann-Pick disease with vertical supranuclear ophthalmoplegia
    • Breen L, Morris HH, Alperin JB, Schochet SSJ. Juvenile Niemann-Pick disease with vertical supranuclear ophthalmoplegia. Arch Neurol 1981;38:388-391.
    • (1981) Arch Neurol , vol.38 , pp. 388-391
    • Breen, L.1    Morris, H.H.2    Alperin, J.B.3    Schochet, S.S.J.4
  • 10
    • 0001962445 scopus 로고
    • 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


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.