SEARCH

SEARCH BY CITATION

References

  • 1
    Smith DW, Lemli L, Opitz JM. A newly recognized syndrome of multiple congenital anomalies. J Pediatr 1964; 64: 2107.
  • 2
    Nowaczyk MJ, Whelan DT, Hill RE. Smith–Lemli–Opitz syndrome: Phenotypic extreme with minimal clinical findings. Am J Med Genet 1998; 78: 41923.
  • 3
    De Die-Smulders C, Fryns JP. Smith–Lemli–Opitz syndrome. The changing phenotype with age. Genet Couns 1992; 3: 7782.
  • 4
    Ryan AK, Bartlett K, Clayton P et al. Smith–Lemli–Opitz syndrome: a variable clinical and biochemical phenotype. JMed Genet 1998; 35: 55865.
  • 5
    Nowaczyk MJ. In: Canadian Paediatric Surveillance Program. Results 2000. Ottawa: Canadian Paediatric Society, 2001; 3840.
  • 6
    Tint GS, Irons M, Elias ER et al. Defective cholesterol biosynthesis associated with the Smith–Lemli–Opitz syndrome. NEngl J Med 1994; 330: 10713.
  • 7
    Moebius FF, Fitsky BU, Lee JN, Paik YK, Glossmann H. Molecular cloning and expression of the human delta 7-sterol reductase. Proc Natl Acad Sci USA 1998; 95: 1899902.
  • 8
    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: 5562.
  • 9
    Waterham HR, Wijburg FA, Hennekam RC et al. Smith–Lemli–Opitz syndrome is caused by mutations in th 7-dehydrocholesterol reductase gene. Am J Hum Genet 1998; 63: 32938.
  • 10
    Nowaczyk MJ, Nakamura LM, Waye JS. DHCR 7 and Smith–Lemli–Opitz syndrome. Clin Invest Med 2001; 24: 3117.
  • 11
    Irons MB, Tint GS. Prenatal diagnosis of Smith–Lemli–Opitz syndrome. Prenat Diagn 1998; 18: 36972.
  • 12
    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: 3114.
  • 13
    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: 72933.
  • 14
    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: 30510.
  • 15
    Nwokoro NA, Mulvihill JJ. Cholesterol and bile acid replacement in children and adults with Smith–Lemli–Opitz syndrome. Am Med General 1997; 68: 31521.
  • 16
    Yu H, Lee MH, Starck L et al. Spectrum of Δ7-dehydrocholesterol reductase mutations in patients with the Smith–Lemli–Opitz syndrome. Hum Mol General 2000; 9: 138591.
  • 17
    Kelley RI, Hennekam RC. The Smith–Lemli–Opitz syndrome. JMed Genet 2000; 37: 32135.
  • 18
    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: 113743.
  • 19
    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: 34752.
  • 20
    Linck LM, Lin DS, Flavell D, Connor WE, Steiner RD. Cholesterol supplementation with egg yolk increases plasma cholesterol and decreases plasma 7-dehydrocholesterol inSmith–Lemli–Opitz syndrome. Am J Med Gen 2000; 93: 3605.
  • 21
    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: 46474.
  • 22
    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: 143744.
  • 23
    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: 90515.
  • 24
    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: 827.
  • 25
    Cunniff C, Kratz LE, Moser A, Natowics MR, Kelley RI. Clinical and biochemical spectrum of patients with RSH/Smith–Lemli–Opitz syndrome and abnormal cholesterol metabolism. Am J Med Genet 1997; 68: 2639.
  • 26
    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: 40212.
  • 27
    Tierney E, Nwokoro NA, Porter FD, Freund LS, Ghuman JK, Kelley RI. Behavior phenotype in the RSH/Smith–Lemli–Opitz syndrome. Am J Med Gen 2001; 98: 191200.
  • 28
    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: 40614.
  • 29
    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.
  • 30
    Fumagalli R, Smith ME, Urna G, Paoletti R. The effect of hypocholesteremic agents on myelogenesis. J Neurochem 1969; 16: 132939.
  • 31
    Andersson HC, Frentz J, Martinez JE, Tuck-Muller CM, Bellizaire J. Adrenal insuffiency in Smith–Lemli–Opitz syndrome. Am J Med Genet 1999; 82: 3824.
  • 32
    Jira PE, Wevers RA, De Jong J et al. Simvastatin: a new therapeutic approach for Smith–Lemli–Opitz syndrome. J Lipid Res 2000; 41: 133946.