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Volumn 41, Issue 1, 1997, Pages 111-114

Adult-onset krabbe's disease in siblings with novel mutations in the galactocerebrosidase gene

Author keywords

[No Author keywords available]

Indexed keywords

GALACTOSYLCERAMIDASE;

EID: 0031024119     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/ana.410410119     Document Type: Article
Times cited : (17)

References (14)
  • 1
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    • Galactosylceramide lipidosis: Globoid cell leukodystrophy
    • Stanbury JB, Wyngaarden JB, Fredrickson DS, et al, eds. New York: McGraw Hill
    • Suzuki K, Suzuki Y. Galactosylceramide lipidosis: globoid cell leukodystrophy. In: Stanbury JB, Wyngaarden JB, Fredrickson DS, et al, eds. The metabolic basis of inherited disease. New York: McGraw Hill, 1978:747-769
    • (1978) The Metabolic Basis of Inherited Disease , pp. 747-769
    • Suzuki, K.1    Suzuki, Y.2
  • 2
    • 0018821962 scopus 로고
    • Krabbe disease: A galactosylsphingosine (psychosine) lipidosis
    • Svennerholm L, Vanier MT, Mansson JE. Krabbe disease: a galactosylsphingosine (psychosine) lipidosis. J Lipid Res 1980;21:53-64
    • (1980) J Lipid Res , vol.21 , pp. 53-64
    • Svennerholm, L.1    Vanier, M.T.2    Mansson, J.E.3
  • 3
    • 0019420779 scopus 로고
    • Clinical and biochemical heterogeneity of globoid cell leukodystrophy
    • Farrell D, Swedberg K. Clinical and biochemical heterogeneity of globoid cell leukodystrophy. Ann Neurol 1981;10:364-368
    • (1981) Ann Neurol , vol.10 , pp. 364-368
    • Farrell, D.1    Swedberg, K.2
  • 4
    • 0025944348 scopus 로고
    • Globoid cell leukodystrophy: A family with both late-infantile and adult type
    • Verdru P, Lammens M, Dom R, et al. Globoid cell leukodystrophy: a family with both late-infantile and adult type. Neurology 1991;41:1382-1384
    • (1991) Neurology , vol.41 , pp. 1382-1384
    • Verdru, P.1    Lammens, M.2    Dom, R.3
  • 5
    • 0026410675 scopus 로고
    • Late-onset Krabbe disease (globoid cell leukodystrophy): Clinical and biochemical features of 15 cases
    • Kolodny EH, Raghavan S, Krivit W. Late-onset Krabbe disease (globoid cell leukodystrophy): clinical and biochemical features of 15 cases. Dev Neurosci 1991;13:232-239
    • (1991) Dev Neurosci , vol.13 , pp. 232-239
    • Kolodny, E.H.1    Raghavan, S.2    Krivit, W.3
  • 8
    • 0029156759 scopus 로고
    • A large dilution together with a point mutation in the GALC gene is a common mutant allele in patients with infantile Krabbe disease
    • Rafi MA, Luzi P, Chin YQ, Wenger DA. A large dilution together with a point mutation in the GALC gene is a common mutant allele in patients with infantile Krabbe disease. Hum Mol Genet 1995;4:1285-1289
    • (1995) Hum Mol Genet , vol.4 , pp. 1285-1289
    • Rafi, M.A.1    Luzi, P.2    Chin, Y.Q.3    Wenger, D.A.4
  • 9
    • 0028827824 scopus 로고
    • Characterization of the large deletion in the GALC gene found in patients with Krabbe disease
    • Luzi P, Rafi MA, Wenger DA. Characterization of the large deletion in the GALC gene found in patients with Krabbe disease. Hum Mol Genet 1995;4:2335-2338
    • (1995) Hum Mol Genet , vol.4 , pp. 2335-2338
    • Luzi, P.1    Rafi, M.A.2    Wenger, D.A.3
  • 10
    • 0030058576 scopus 로고    scopus 로고
    • Two different mutations are responsible for Krabbe disease in the Druze and Muslim Arab population
    • Rafi MA, Luzi P, Zlotogora J, Wenger DA. Two different mutations are responsible for Krabbe disease in the Druze and Muslim Arab population. Hum Genet 1996;97:304-308
    • (1996) Hum Genet , vol.97 , pp. 304-308
    • Rafi, M.A.1    Luzi, P.2    Zlotogora, J.3    Wenger, D.A.4
  • 11
    • 0028787245 scopus 로고
    • Molecular deficit in Krabbe disease
    • Tatsumi N, Inui K, Sakai N, et al. Molecular deficit in Krabbe disease. Hum Mol Genet 1995;4:1865-1868
    • (1995) Hum Mol Genet , vol.4 , pp. 1865-1868
    • Tatsumi, N.1    Inui, K.2    Sakai, N.3
  • 12
    • 0022648167 scopus 로고
    • Krabbe disease: Specific MRI and CT findings
    • Baram, Tallie Z, Goldman AM, Percy AK. Krabbe disease: specific MRI and CT findings. Neurology 1986;36:111-115
    • (1986) Neurology , vol.36 , pp. 111-115
    • Baram1    Tallie, Z.2    Goldman, A.M.3    Percy, A.K.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.