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Volumn 68, Issue 3, 1997, Pages 260-262

Smith-lemli-opitz syndrome: thirty-year follow-up of "S" of "RSH" syndrome

Author keywords

Cholesterol; Long term follow up; Smith lemli opitz syndrome

Indexed keywords

ARTICLE; CASE REPORT; CHOLESTEROL SYNTHESIS; DIET SUPPLEMENTATION; DIETARY INTAKE; FAT INTAKE; HUMAN; PRIORITY JOURNAL; SMITH LEMLI OPITZ SYNDROME;

EID: 0031043289     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/(sici)1096-8628(19970131)68:3<260::aid-ajmg3>3.0.co;2-q     Document Type: Article
Times cited : (16)

References (13)
  • 1
    • 0026681087 scopus 로고
    • Smith-Lemli-Opitz syndrome: The changing phenotype with age
    • DeDie-Smulders C, Fiyns JP (1992): Smith-Lemli-Opitz syndrome: The changing phenotype with age. Genet Counseling 3:77-82.
    • (1992) Genet Counseling , vol.3 , pp. 77-82
    • Fiyns Jp, D.C.1
  • 2
    • 0029098207 scopus 로고
    • Defective conversion of 7-dehydrocholesterol to cholesterol in cultured skin fibroblasts from Smith-Lemli-Opitz syndrome homozygotes
    • Honda A, Tint GS, Salen G, Batta AK, Chen TS, Shefer S (1995): Defective conversion of 7-dehydrocholesterol to cholesterol in cultured skin fibroblasts from Smith-Lemli-Opitz syndrome homozygotes. J Lipid Res 36:1595-1601.
    • (1995) J Lipid Res , vol.36 , pp. 1595-1601
    • Honda, A.1    Tint, G.S.2    Salen, G.3    Batta, A.K.4    Chen, T.S.5    Shefer, S.6
  • 3
    • 0027270349 scopus 로고
    • Defective cholesterol biosynthesis in Smith-Lemli-Opitz syndrome
    • Irons M, Elias ER, Salen G, Tint GS, Batta AK (1993): Defective cholesterol biosynthesis in Smith-Lemli-Opitz syndrome. Lancet 341: 1414.
    • (1993) Lancet , vol.341 , pp. 1414
    • Irons, M.1    Elias, E.R.2    Salen, G.3    Tint, G.S.4    Batta, A.K.5
  • 4
    • 0028295496 scopus 로고
    • Abnormal cholesterol metabolism in the Smith-LemliOpitz syndrome: Report of clinical and biochemical findings in four patients and treatment in one patient
    • Irons M, Elias ER, Tint GS, Sälen G, Frieden R, Buie TM, Ampola M (1994): Abnormal cholesterol metabolism in the Smith-LemliOpitz syndrome: Report of clinical and biochemical findings in four patients and treatment in one patient. Am J Med Genet 50: 347-352.
    • (1994) Am J Med Genet , vol.50 , pp. 347-352
    • Irons, M.1    Elias, E.R.2    Tint, G.S.3    Sälen, G.4    Frieden, R.5    Buie, T.M.6    Ampola, M.7
  • 6
    • 0028268979 scopus 로고
    • Smith-Lemli-Opitz syndrome: Biochemical before clinical diagnosis; early dietary management
    • Nwokoro NA, Hyde B, Mulvihill JJ (1994): Smith-Lemli-Opitz syndrome: Biochemical before clinical diagnosis; early dietary management. Am J Med Genet 50:375-376.
    • (1994) Am J Med Genet , vol.50 , pp. 375-376
    • Nwokoro, N.A.1    Hyde, B.2    Mulvihill, J.J.3
  • 7
    • 0028314608 scopus 로고
    • RSH/SLO ("Smith-Lemli-Opitz") syndrome: Historical, genetic, and developmental considerations
    • Opitz JM (1994): RSH/SLO ("Smith-Lemli-Opitz") syndrome: Historical, genetic, and developmental considerations. Am J Med Genet 50: 344-346.
    • (1994) Am J Med Genet , vol.50 , pp. 344-346
    • Opitz, J.M.1
  • 9
    • 0028884255 scopus 로고
    • Markedly inhibited 7-dehydrocholesteroldelta(7)-reductase activity in liver microsomes from Smith-LemliOpitz homozygotes
    • Shefer S, Sälen G, Batta AK, Honda A, Tint GS, Iron M, Elias ER, Chen TC, Holick MF (1995): Markedly inhibited 7-dehydrocholesteroldelta(7)-reductase activity in liver microsomes from Smith-LemliOpitz homozygotes. J Clin Invest 96:1779-1785.
    • (1995) J Clin Invest , vol.96 , pp. 1779-1785
    • Shefer, S.1    Sälen, G.2    Batta, A.K.3    Honda, A.4    Tint, G.S.5    Iron, M.6    Elias, E.R.7    Chen, T.C.8    Holick, M.F.9
  • 10
    • 0000139419 scopus 로고
    • A newly recognized syndrome of multiple congenital anomalies
    • Smith DW, Lemli L, Opitz JM (1964): A newly recognized syndrome of multiple congenital anomalies. J Pediatr 64:210-217.
    • (1964) J Pediatr , vol.64 , pp. 210-217
    • Smith, D.W.1    Lemli, L.2    Opitz, J.M.3
  • 13
    • 0029091185 scopus 로고
    • Treatment of the cholesterol biosynthetic defect in Smith-Lemli-Opitz syndrome reproduced in rats by BM 15.766
    • Xu GR, Salen G, Shefer S, Ness GC, Chen TS, Zhao ZH, Salen L, Tint GS (1995): Treatment of the cholesterol biosynthetic defect in Smith-Lemli-Opitz syndrome reproduced in rats by BM 15.766. Gastroenterology 109:1301-1307.
    • (1995) Gastroenterology , vol.109 , pp. 1301-1307
    • Xu, G.R.1    Salen, G.2    Shefer, S.3    Ness, G.C.4    Chen, T.S.5    Zhao, Zh.6    Salen, L.7    Tint, G.S.8


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.