메뉴 건너뛰기




Volumn 252, Issue 4, 2002, Pages 314-321

Cholesterol treatment forever? The first Scandinavian trial of cholesterol supplementation in the cholesterol-synthesis defect Smith-Lemli-Opitz syndrome

Author keywords

Cholesterol treatment; Lathosterol; Photosensitivity; Smith Lemli Opitz syndrome

Indexed keywords

7 DEHYDROCHOLESTEROL; 7 DEHYDROCHOLESTEROL 7 REDUCTASE; 8 DEHYDROCHOLESTEROL; BIOLOGICAL MARKER; CHOLESTEROL; CHOLESTEROL DERIVATIVE; LATHOSTEROL; TAUROCHOLIC ACID; UNCLASSIFIED DRUG;

EID: 0036034727     PISSN: 09546820     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2796.2002.01037.x     Document Type: Article
Times cited : (24)

References (32)
  • 1
    • 0000139419 scopus 로고
    • A newly recognized syndrome of multiple congenital anomalies
    • Smith DW, Lemli L, Opitz JM. A newly recognized syndrome of multiple congenital anomalies. J Pediatr 1964; 64: 210-7.
    • (1964) J Pediatr , vol.64 , pp. 210-217
    • Smith, D.W.1    Lemli, L.2    Opitz, J.M.3
  • 2
    • 0031830407 scopus 로고    scopus 로고
    • Smith-Lemli-Opitz syndrome: Phenotypic extreme with minimal clinical findings
    • Nowaczyk MJ, Whelan DT, Hill RE. Smith-Lemli-Opitz syndrome: Phenotypic extreme with minimal clinical findings. Am J Med Genet 1998; 78: 419-23.
    • (1998) Am J Med Genet , vol.78 , pp. 419-423
    • Nowaczyk, M.J.1    Whelan, D.T.2    Hill, R.E.3
  • 3
    • 0026681087 scopus 로고
    • Smith-Lemli-Opitz syndrome. The changing phenotype with age
    • De Die-Smulders C, Fryns JP. Smith-Lemli-Opitz syndrome. The changing phenotype with age. Genet Couns 1992; 3: 77-82.
    • (1992) Genet Couns , vol.3 , pp. 77-82
    • De Die-Smulders, C.1    Fryns, J.P.2
  • 4
    • 0031812755 scopus 로고    scopus 로고
    • Smith-Lemli-Opitz syndrome: A variable clinical and biochemical phenotype
    • Ryan AK, Bartlett K, Clayton P et al. Smith-Lemli-Opitz syndrome: A variable clinical and biochemical phenotype. J Med Genet 1998; 35: 558-65.
    • (1998) J Med Genet , vol.35 , pp. 558-565
    • Ryan, A.K.1    Bartlett, K.2    Clayton, P.3
  • 6
    • 0000727177 scopus 로고
    • Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz syndrome
    • Tint GS, Irons M, Elias ER et al. Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz syndrome. N Engl J Med 1994; 330: 107-13.
    • (1994) N Engl J Med , vol.330 , pp. 107-113
    • Tint, G.S.1    Irons, M.2    Elias, E.R.3
  • 8
    • 0032231459 scopus 로고    scopus 로고
    • Mutations in the human sterol delta 7-reductase gene at 11q12-13 cause Smith-Lemli-Opitz syndrome
    • Wassif CA, Maslen C, Kachilele-Linjewile S et al. Mutations in the human sterol delta 7-reductase gene at 11q12-13 cause Smith-Lemli-Opitz syndrome. Am J Hum Genet 1998; 63: 55-62.
    • (1998) Am J Hum Genet , vol.63 , pp. 55-62
    • Wassif, C.A.1    Maslen, C.2    Kachilele-Linjewile, S.3
  • 9
    • 0032231706 scopus 로고    scopus 로고
    • Smith-Lemli-Opitz syndrome is caused by mutations in th 7-dehy-drocholesterol reductase gene
    • Waterham HR, Wijburg FA, Hennekam RC et al. Smith-Lemli-Opitz syndrome is caused by mutations in th 7-dehy-drocholesterol reductase gene. Am J Hum Genet 1998; 63: 329-38.
    • (1998) Am J Hum Genet , vol.63 , pp. 329-338
    • Waterham, H.R.1    Wijburg, F.A.2    Hennekam, R.C.3
  • 11
    • 0031969342 scopus 로고    scopus 로고
    • Prenatal diagnosis of Smith-Lemli-Opitz syndrome
    • Irons MB, Tint GS. Prenatal diagnosis of Smith-Lemli-Opitz syndrome. Prenat Diagn 1998; 18: 369-72.
    • (1998) Prenat Diagn , vol.18 , pp. 369-372
    • Irons, M.B.1    Tint, G.S.2
  • 12
    • 0031051150 scopus 로고    scopus 로고
    • Treatment of Smith-Lemli-Opitz syndrome: Results of a multicenter trial
    • Irons M, Elias ER, Abuelo D et al. Treatment of Smith-Lemli-Opitz syndrome: Results of a multicenter trial. Am J Med Genet 1997; 68: 311-4.
    • (1997) Am J Med Genet , vol.68 , pp. 311-314
    • Irons, M.1    Elias, E.R.2    Abuelo, D.3
  • 13
    • 0032807572 scopus 로고    scopus 로고
    • Beneficial effects of dietary supplementation in a disorder with defective synthesis of cholesterol. A case report of a girl with Smith-Lemli-Opitz syndrome, polyneuropathy and precocious puberty
    • Starck L, Björkhem I, Ritzén EM, Nilsson BY, von Döbeln U. Beneficial effects of dietary supplementation in a disorder with defective synthesis of cholesterol. A case report of a girl with Smith-Lemli-Opitz syndrome, polyneuropathy and precocious puberty. Acta Paediatr 1999; 88: 729-33.
    • (1999) Acta Paediatr , vol.88 , pp. 729-733
    • Starck, L.1    Björkhem, I.2    Ritzén, E.M.3    Nilsson, B.Y.4    Von Döbeln, U.5
  • 14
    • 0031050244 scopus 로고    scopus 로고
    • Clinical effects of cholesterol supplementation in six patients with the Smith-Lemli-Opitz syndrome (SLOS)
    • Elias ER, Irons M, Hurley AD, Tint GS, Salen G. Clinical effects of cholesterol supplementation in six patients with the Smith-Lemli-Opitz syndrome (SLOS). Am J Med Genet 1997; 68: 305-10.
    • (1997) Am J Med Genet , vol.68 , pp. 305-310
    • Elias, E.R.1    Irons, M.2    Hurley, A.D.3    Tint, G.S.4    Salen, G.5
  • 15
    • 0031050246 scopus 로고    scopus 로고
    • Cholesterol and bile acid replacement in children and adults with Smith-Lemli-Opitz syndrome
    • Nwokoro NA, Mulvihill JJ. Cholesterol and bile acid replacement in children and adults with Smith-Lemli-Opitz syndrome. Am Med General 1997; 68: 315-21.
    • (1997) Am Med General , vol.68 , pp. 315-321
    • Nwokoro, N.A.1    Mulvihill, J.J.2
  • 16
    • 0034702085 scopus 로고    scopus 로고
    • 7-dehydrocholesterol reductase mutations in patients with the Smith-Lemli-Opitz syndrome
    • 7-dehydrocholesterol reductase mutations in patients with the Smith-Lemli-Opitz syndrome. Hum Mol General 2000; 9: 1385-91.
    • (2000) Hum Mol General , vol.9 , pp. 1385-1391
    • Yu, H.1    Lee, M.H.2    Starck, L.3
  • 17
    • 0034097540 scopus 로고    scopus 로고
    • The Smith-Lemli-Opitz syndrome
    • Kelley RI, Hennekam RC. The Smith-Lemli-Opitz syndrome. J Med Genet 2000; 37: 321-35.
    • (2000) J Med Genet , vol.37 , pp. 321-335
    • Kelley, R.I.1    Hennekam, R.C.2
  • 18
    • 0023639025 scopus 로고
    • Correlation between serum levels of some cholesterol precursors and activity of HMG-CoA reductase in human liver
    • Björkhem I, Miettinen T, Reihnér E, Ewerth S, Angelin B, Einarsson K. Correlation between serum levels of some cholesterol precursors and activity of HMG-CoA reductase in human liver. J Lipid Res 1987; 28: 1137-43.
    • (1987) J Lipid Res , vol.28 , pp. 1137-1143
    • Björkhem, I.1    Miettinen, T.2    Reihnér, E.3    Ewerth, S.4    Angelin, B.5    Einarsson, K.6
  • 19
    • 0028295496 scopus 로고
    • Abnormal cholesterol metabolism in the Smith-Lemli-Opitz syndrome: Report of clinical and biochemical findings in four patients and treatment in one patient
    • Irons M, Elias ER, Tint GS et al. Abnormal cholesterol metabolism in the Smith-Lemli-Opitz syndrome: Report of clinical and biochemical findings in four patients and treatment in one patient. Am J Med Gen 1994; 50: 347-52.
    • (1994) Am J Med Gen , vol.50 , pp. 347-352
    • Irons, M.1    Elias, E.R.2    Tint, G.S.3
  • 20
    • 0034726691 scopus 로고    scopus 로고
    • Cholesterol supplementation with egg yolk increases plasma cholesterol and decreases plasma 7-dehydrocholesterol in Smith-Lemli-Opitz syndrome
    • Linck LM, Lin DS, Flavell D, Connor WE, Steiner RD. Cholesterol supplementation with egg yolk increases plasma cholesterol and decreases plasma 7-dehydrocholesterol in Smith-Lemli-Opitz syndrome. Am J Med Gen 2000; 93: 360-5.
    • (2000) Am J Med Gen , vol.93 , pp. 360-365
    • Linck, L.M.1    Lin, D.S.2    Flavell, D.3    Connor, W.E.4    Steiner, R.D.5
  • 21
    • 0033931248 scopus 로고    scopus 로고
    • Regulation of cholesterol biosynthetic pathway in patients with the Smith-Lemli-Opitz syndrome
    • Honda M, Tint GS, Honda A et al. Regulation of cholesterol biosynthetic pathway in patients with the Smith-Lemli-Opitz syndrome. J Inher Metab Dis 2000; 23: 464-74.
    • (2000) J Inher Metab Dis , vol.23 , pp. 464-474
    • Honda, M.1    Tint, G.S.2    Honda, A.3
  • 22
    • 0033806452 scopus 로고    scopus 로고
    • Sterol balance in the Smith-Lemli-Opitz syndrome. Reduction in whole body cholesterol synthesis and normal bile acid production
    • Steiner RD, Linck LM, Flavell DP, Lin DS, Connor WE. Sterol balance in the Smith-Lemli-Opitz syndrome. Reduction in whole body cholesterol synthesis and normal bile acid production. J Lipid Res 2000; 41: 1437-44.
    • (2000) J Lipid Res , vol.41 , pp. 1437-1444
    • Steiner, R.D.1    Linck, L.M.2    Flavell, D.P.3    Lin, D.S.4    Connor, W.E.5
  • 23
    • 0034829757 scopus 로고    scopus 로고
    • 7-Dehydrocholesterol-dependent proteolysis of HMG-CoA reductase suppresses sterol biosynthesis in a mouse model of Smith-Lemli-Opitz/RSH syndrome
    • Fitsky BU, Moebius FF, Asaoka H et al. 7-Dehydrocholesterol-dependent proteolysis of HMG-CoA reductase suppresses sterol biosynthesis in a mouse model of Smith-Lemli-Opitz/RSH syndrome. J Clin Invest 2001; 108: 905-15.
    • (2001) J Clin Invest , vol.108 , pp. 905-915
    • Fitsky, B.U.1    Moebius, F.F.2    Asaoka, H.3
  • 24
    • 0029146619 scopus 로고
    • Correlation of severity and outcome with plasma sterol leves in variants of the Smith-Lemli-Opitz syndrome
    • Tint GS, Salen G, Batta AK et al. Correlation of severity and outcome with plasma sterol leves in variants of the Smith-Lemli-Opitz syndrome. J Pediatr 1995; 127: 82-7.
    • (1995) J Pediatr , vol.127 , pp. 82-87
    • Tint, G.S.1    Salen, G.2    Batta, A.K.3
  • 25
    • 0031044525 scopus 로고    scopus 로고
    • Clinical and biochemical spectrum of patients with RSH/Smith-Lem-li-Opitz syndrome and abnormal cholesterol metabolism
    • Cunniff C, Kratz LE, Moser A, Natowics MR, Kelley RI. Clinical and biochemical spectrum of patients with RSH/Smith-Lem-li-Opitz syndrome and abnormal cholesterol metabolism. Am J Med Genet 1997; 68: 263-9.
    • (1997) Am J Med Genet , vol.68 , pp. 263-269
    • Cunniff, C.1    Kratz, L.E.2    Moser, A.3    Natowics, M.R.4    Kelley, R.I.5
  • 26
    • 0034134128 scopus 로고    scopus 로고
    • Mutational spectrum in delta 7-reductase gene and genotype-pfenotype correlation in 84 patients with Smith-Lemli-Opitz syndrome
    • Witsch-Baumgarter M, Fitsky BU, Ogorelkova M et al. Mutational spectrum in delta 7-reductase gene and genotype-pfenotype correlation in 84 patients with Smith-Lemli-Opitz syndrome. Am J Hum Gen 2000; 66: 402-12.
    • (2000) Am J Hum Gen , vol.66 , pp. 402-412
    • Witsch-Baumgarter, M.1    Fitsky, B.U.2    Ogorelkova, M.3
  • 28
    • 0032834914 scopus 로고    scopus 로고
    • Characterization of photosensitivity in the Smith-Lemli-Opitz syndrome: A new congenital photosensitivity syndrome
    • Anstey AV, Ryan A, Rhodes LE et al. Characterization of photosensitivity in the Smith-Lemli-Opitz syndrome: A new congenital photosensitivity syndrome. Br J Dermatol 1999; 141: 406-14.
    • (1999) Br J Dermatol , vol.141 , pp. 406-414
    • Anstey, A.V.1    Ryan, A.2    Rhodes, L.E.3
  • 29
    • 0000499154 scopus 로고    scopus 로고
    • Severe photosensitivity is common on the Smith-Lemli-Opitz syndrome: A questionnaire-based study in the USA
    • Anstey AV, Taylor CR. Severe photosensitivity is common on the Smith-Lemli-Opitz syndrome: A questionnaire-based study in the USA. Photodermatol Photoimmunol Photomed 1998; 14: 144.
    • (1998) Photodermatol Photoimmunol Photomed , vol.14 , pp. 144
    • Anstey, A.V.1    Taylor, C.R.2
  • 30
    • 0014577402 scopus 로고
    • The effect of hypocholesteremic agents on myelogenesis
    • Fumagalli R, Smith ME, Urna G, Paoletti R. The effect of hypocholesteremic agents on myelogenesis. J Neurochem 1969; 16: 1329-39.
    • (1969) J Neurochem , vol.16 , pp. 1329-1339
    • Fumagalli, R.1    Smith, M.E.2    Urna, G.3    Paoletti, R.4
  • 32
    • 0033849199 scopus 로고    scopus 로고
    • Simvastatin: A new therapeutic approach for Smith-Lemli-Opitz syndrome
    • Jira PE, Wevers RA, de Jong J et al. Simvastatin: A new therapeutic approach for Smith-Lemli-Opitz syndrome. J Lipid Res 2000; 41: 1339-46.
    • (2000) J Lipid Res , vol.41 , pp. 1339-1346
    • Jira, P.E.1    Wevers, R.A.2    De Jong, J.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.