메뉴 건너뛰기




Volumn 10, Issue 5, 1996, Pages 602-605

Nephrotic syndrome, hypertension, and adrenal failure in atypical Cockayne syndrome

Author keywords

Adrenocortical failure; Cockayne syndrome; Focal glomerulosclerosis; Leukodystrophy; Nephrotic syndrome

Indexed keywords

ADRENAL INSUFFICIENCY; ARTICLE; AUTOPSY; CASE REPORT; COCKAYNE SYNDROME; DISEASE COURSE; FOCAL GLOMERULOSCLEROSIS; HEMIPARESIS; HUMAN; HYPERTENSION; KIDNEY BIOPSY; KIDNEY FAILURE; LEUKODYSTROPHY; MALE; MYOCARDITIS; NEPHROSIS; PRESCHOOL CHILD; PRIORITY JOURNAL;

EID: 0029761204     PISSN: 0931041X     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004670050170     Document Type: Article
Times cited : (13)

References (23)
  • 1
    • 0002362692 scopus 로고
    • Dwarfism with retinal atrophy and deafness
    • Cockayne EA (1946) Dwarfism with retinal atrophy and deafness. Arch Dis Child 21: 52-54
    • (1946) Arch Dis Child , vol.21 , pp. 52-54
    • Cockayne, E.A.1
  • 2
    • 0026508774 scopus 로고
    • Cockayne syndrome: Reviewing of 140 cases
    • Nance MA, Berry SA (1992) Cockayne syndrome: reviewing of 140 cases. Am J Med Genet 42: 68-84
    • (1992) Am J Med Genet , vol.42 , pp. 68-84
    • Nance, M.A.1    Berry, S.A.2
  • 3
    • 0020305594 scopus 로고
    • Photosensitivity and the genodermatoses
    • Fischer E, Jung EG (1982) Photosensitivity and the genodermatoses. Semin Dermatol 1: 169-174
    • (1982) Semin Dermatol , vol.1 , pp. 169-174
    • Fischer, E.1    Jung, E.G.2
  • 4
    • 33646324810 scopus 로고
    • Cockayne's syndrome: Heredofamilial disorder of growth and development. Editor's comment
    • Gellis SS (ed) Year Book Medical, Chicago
    • Gellis SS (1962) Cockayne's syndrome: heredofamilial disorder of growth and development. Editor's comment. In: Gellis SS (ed) Year Book of Pediatrics 1961-1962. Year Book Medical, Chicago, pp 468-471
    • (1962) Year Book of Pediatrics 1961-1962 , pp. 468-471
    • Gellis, S.S.1
  • 5
    • 0014027656 scopus 로고
    • Renal lesions in Cockayne's syndrome
    • Ohno T, Hirooka M (1966) Renal lesions in Cockayne's syndrome. Tohoku J Exp Med 89: 151
    • (1966) Tohoku J Exp Med , vol.89 , pp. 151
    • Ohno, T.1    Hirooka, M.2
  • 6
    • 0014600719 scopus 로고
    • Cockayne's syndrome: Report of a case with hyperlipoproteinemia, hyperinsulinemia, renal disease, and normal growth hormone
    • Fujimoto WY, Greene ML, Seegmiller JE (1969) Cockayne's syndrome: report of a case with hyperlipoproteinemia, hyperinsulinemia, renal disease, and normal growth hormone. J Pediatr 75: 881-884
    • (1969) J Pediatr , vol.75 , pp. 881-884
    • Fujimoto, W.Y.1    Greene, M.L.2    Seegmiller, J.E.3
  • 7
    • 0014669115 scopus 로고
    • Cockayne's syndrome. Report of case with necropsy findings
    • Rowlatt U (1969) Cockayne's syndrome. Report of case with necropsy findings. Acta Neuropathol (Berl) 14: 52-61
    • (1969) Acta Neuropathol (Berl) , vol.14 , pp. 52-61
    • Rowlatt, U.1
  • 9
    • 0017469594 scopus 로고
    • Cockayne syndrome: Clinical study of two patients and neuropathologic findings in one
    • Sugarman GI, Landing BH, Reed WB (1977) Cockayne syndrome: clinical study of two patients and neuropathologic findings in one. Clin Pediatr (Phila) 16: 225-232
    • (1977) Clin Pediatr (Phila) , vol.16 , pp. 225-232
    • Sugarman, G.I.1    Landing, B.H.2    Reed, W.B.3
  • 13
  • 16
    • 0019786395 scopus 로고
    • Collagen synthesis by fibroblasts in a patient with the Cockayne syndrome
    • Keren G, Duskin D, Cohen BE, Goodman RM (1981) Collagen synthesis by fibroblasts in a patient with the Cockayne syndrome. Eur J Pediatr 137: 339-342
    • (1981) Eur J Pediatr , vol.137 , pp. 339-342
    • Keren, G.1    Duskin, D.2    Cohen, B.E.3    Goodman, R.M.4
  • 18
    • 0023245454 scopus 로고
    • Ultraviolet hypersensitivity of cultured fibroblasts of a case of Cockayne's syndrome without clinical hypersensitivity
    • Sakashita Y, Kuzuhara S, Honda S, Ohkawa Y, Yamanouchi H (1987) Ultraviolet hypersensitivity of cultured fibroblasts of a case of Cockayne's syndrome without clinical hypersensitivity. Clin Neurol 27: 741-744
    • (1987) Clin Neurol , vol.27 , pp. 741-744
    • Sakashita, Y.1    Kuzuhara, S.2    Honda, S.3    Ohkawa, Y.4    Yamanouchi, H.5
  • 20
    • 0001574585 scopus 로고
    • Adrenoleukodystrophy (x-linked)
    • Scriver CR, Beaudet AL, Shy WS, Valle D (eds) McGraw Hill, New York
    • Moser MW, Moser AE (1989) Adrenoleukodystrophy (x-linked). In: Scriver CR, Beaudet AL, Shy WS, Valle D (eds) The metabolic basis of inherited disease, 6th edn. McGraw Hill, New York, pp 1511-1532
    • (1989) The Metabolic Basis of Inherited Disease, 6th Edn. , pp. 1511-1532
    • Moser, M.W.1    Moser, A.E.2
  • 22
    • 0025341294 scopus 로고
    • The genetic defect in Cockayne syndrome is associated with a defect in repair of UV-induced DNA damage in transcriptionally active DNA
    • Venema J, Mullenders LH, Natarajan AT, Zeeland AA van, Mayne LV (1990) The genetic defect in Cockayne syndrome is associated with a defect in repair of UV-induced DNA damage in transcriptionally active DNA. Proc Natl Acad Sci USA 87: 4707-4711
    • (1990) Proc Natl Acad Sci USA , vol.87 , pp. 4707-4711
    • Venema, J.1    Mullenders, L.H.2    Natarajan, A.T.3    Van Zeeland, A.A.4    Mayne, L.V.5
  • 23
    • 0027295923 scopus 로고
    • The conudrum of xeroderma pigmentosum - A rare disease with frequent complexities
    • Friedberg EC, Henking KA (1993) The conudrum of xeroderma pigmentosum - a rare disease with frequent complexities. Mutat Res 289: 47-53
    • (1993) Mutat Res , vol.289 , pp. 47-53
    • Friedberg, E.C.1    Henking, K.A.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.