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Volumn 37, Issue 9, 2000, Pages 939-946

Krabbe disease - Clinical profile

Author keywords

Galactocerebrosidase; Globoid cell leukodystrophy; Krabbe disease

Indexed keywords

AGE DISTRIBUTION; ARTICLE; CHILD; DEVELOPING COUNTRY; FEMALE; GLOBOID CELL LEUKODYSTROPHY; HUMAN; INCIDENCE; INDIA; INFANT; MALE; METHODOLOGY; NUCLEAR MAGNETIC RESONANCE IMAGING; PRESCHOOL CHILD; PROGNOSIS; RETROSPECTIVE STUDY; RISK FACTOR; SEX RATIO;

EID: 0034277259     PISSN: 00196061     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (10)

References (18)
  • 2
    • 0019380202 scopus 로고
    • Spectrophotometric and fluorimetric assays of galactocerebrosidase activity, their use in the diagnosis of Krabbe's disease
    • Besley GTN, Gatt S, Spectrophotometric and fluorimetric assays of galactocerebrosidase activity, their use in the diagnosis of Krabbe's disease. Clinics Chimica Acta 1981; 110: 19-26.
    • (1981) Clinics Chimica Acta , vol.110 , pp. 19-26
    • Besley, G.T.N.1    Gatt, S.2
  • 3
    • 0014457781 scopus 로고
    • The neuropathy of Krabbe's infantile cerebral sclerosis (globoid cell leucodystrophy)
    • Dunn HG, Lake BD, Dolman CI, Wilson J. The neuropathy of Krabbe's infantile cerebral sclerosis (globoid cell leucodystrophy). Brain 1969; 92: 329-344.
    • (1969) Brain , vol.92 , pp. 329-344
    • Dunn, H.G.1    Lake, B.D.2    Dolman, C.I.3    Wilson, J.4
  • 4
    • 0015214502 scopus 로고
    • Krabbe's globoid cell leukodystrophy: Deficiency of galactocerebrosidase in serum, leukocytes and fibroblasts
    • Suzuki Y, Suzuki K. Krabbe's globoid cell leukodystrophy: Deficiency of galactocerebrosidase in serum, leukocytes and fibroblasts. Science 1971; 171: 73-75.
    • (1971) Science , vol.171 , pp. 73-75
    • Suzuki, Y.1    Suzuki, K.2
  • 6
    • 0019420779 scopus 로고
    • Clinical and biochemical heterogeneity of globoid cell leukodystrophy
    • Farrell DF, 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.F.1    Swedberg, K.2
  • 7
    • 0025944348 scopus 로고
    • Globoid cell leukodystrophy: A family with both late infantile and adult type
    • Verdru P, Lammens M, Dom R, Eisen AV, Carton H. 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    Eisen, A.V.4    Carton, H.5
  • 8
  • 9
    • 0033364267 scopus 로고    scopus 로고
    • Globoid cell leukodystrophy: Distinguishing early-onset from the late-onset disease using a brain MR imaging scoring method
    • Loes DJ, Peters C, Krivit W. Globoid cell leukodystrophy: Distinguishing early-onset from the late-onset disease using a brain MR imaging scoring method. Am J Neuroradiol 1999; 20: 316-323.
    • (1999) Am J Neuroradiol , vol.20 , pp. 316-323
    • Loes, D.J.1    Peters, C.2    Krivit, W.3
  • 10
    • 0029050227 scopus 로고
    • Electron microscopic finding of eccrine sweat gland epithelial cells in a patient with Krabbe disease
    • Ohno I, Shinoda K, Tsugawa K, Takizawa N. Taniguchi N, Kimura S. Electron microscopic finding of eccrine sweat gland epithelial cells in a patient with Krabbe disease. Acta Pediatr Jpn 1995; 37: 507-509.
    • (1995) Acta Pediatr Jpn , vol.37 , pp. 507-509
    • Ohno, I.1    Shinoda, K.2    Tsugawa, K.3    Takizawa, N.4    Taniguchi, N.5    Kimura, S.6
  • 11
    • 0027263664 scopus 로고
    • Krabbe globoid cell leukodystrophy. Electron microscopy shows characteristic inclusions in eccrine sweat glands
    • Ceuterick C, Martin JJ. Krabbe globoid cell leukodystrophy. Electron microscopy shows characteristic inclusions in eccrine sweat glands. Pathol Res Pract 1993; 189: 384-386.
    • (1993) Pathol Res Pract , vol.189 , pp. 384-386
    • Ceuterick, C.1    Martin, J.J.2
  • 12
    • 0027754255 scopus 로고
    • Research update on lysosomal disorders with special emphasis on metachromatic leukodystrophy and Krabbe disease
    • Wenger DA. Research update on lysosomal disorders with special emphasis on metachromatic leukodystrophy and Krabbe disease. APMIS 1993; 40 (Suppl): 81-87.
    • (1993) APMIS , vol.40 , Issue.SUPPL. , pp. 81-87
    • Wenger, D.A.1
  • 13
    • 0030058576 scopus 로고    scopus 로고
    • Two different mutations are responsible for Krabbe disease in the Druze and Moslem Arab populations in Israel
    • Rafi MA, Luzi P, Zlotogora J, Wenger DA. Two different mutations are responsible for Krabbe disease in the Druze and Moslem Arab populations in Israel. 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
  • 14
    • 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
  • 16
    • 0005908553 scopus 로고    scopus 로고
    • Correction of the galactocerebrosidase deficiency in globoid cell leukodystrophy-cultured cells by SL3-3 retroviral-mediated gene transfer
    • Gama Sosa MA, de Gasperi R, Undevia S, Yeretsian J, Rouse SC 2nd, Lyerla TA, et al. Correction of the galactocerebrosidase deficiency in globoid cell leukodystrophy-cultured cells by SL3-3 retroviral-mediated gene transfer. Biochem Biophys Res Commun 1996; 218: 766-771.
    • (1996) Biochem Biophys Res Commun , vol.218 , pp. 766-771
    • Gama Sosa, M.A.1    De Gasperi, R.2    Undevia, S.3    Yeretsian, J.4    Rouse S.C. II5    Lyerla, T.A.6
  • 17
    • 0028608964 scopus 로고
    • Pathological and biochemical studies of fetal Krabbe disease
    • Ida H, Rennert OM, Watabe K, Efo Y, Maekawa K. Pathological and biochemical studies of fetal Krabbe disease. Brain Dev 1994; 16: 480-484.
    • (1994) Brain Dev , vol.16 , pp. 480-484
    • Ida, H.1    Rennert, O.M.2    Watabe, K.3    Efo, Y.4    Maekawa, K.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.