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Irons M, Elias ER, Salen G, Tint GS, Batta AK 1993 Defective cholesterol biosynthesis in Smith-Lemli-Opitz syndrome. Lancet 341: 1414
Tint GS, Irons M, Elias ER, Batta AK, Frieden R, Chen TS, Salen G 1994 Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz syndrome. N Engl J Med 330: 107–113
Shefer S, Salen G, Batta AK, Honda A, Tint GS, Irons M, Elias ER, Chen TC, Holick MF 1995 Markedly inhibited 7-dehydrocholesterol-delta7-reductase activity in liver microsomes from Smith-Lemli-Opitz homozygotes. J Clin Invest 96: 1779–1785
Moebius FF, Fitzky BU, Lee JN, Paik YK, Glossmann H 1998 Molecular cloning and expression of the human delta7-sterol reductase. Proc Natl Acad Sci 95: 1899–1902
Fitzky BU, Witsh-Baumgartner M, Erdel M, Lee JN, Paik YK, Glossmann H, Utermann G, Moebius FF 1998 Mutations in the delta7-sterol reductase gene in patients with the Smith-Lemli-Opitz syndrome. Proc Natl Acad Sci USA 95: 8181–8186
Wassif CA, Maslen C, Kachilele-Linjewile S, Lin D, Linck LM, Connor WE, Steiner RD, Porter FD 1998 Mutations in the Human Sterol delta7-reductase gene at 11q12-13 cause Smith-Lemli-Opitz syndrome. Am J Hum Genet 63: 55–62
Porter FD 2003 Human malformation syndromes due to inborn errors of cholesterol synthesis. Curr Opin Pediatr 15: 607–613
Mauch DH, Nagler K, Schumacher S, Goritz C, Muller EC, Otto A, Pfrieger FW 2001 CNS synaptogenesis promoted by glia-derived cholesterol. Science 294: 1354–1357
Kabouridis PS, Janzen J, Magee AL, Ley SC 2000 Cholesterol depletion disrupts lipid rafts and modulates the activity of multiple signaling pathways in T lymphocytes. Eur J Immunol 30: 954–963
Ikonen E 2001 Roles of lipid rafts in membrane transport. Curr Opin Cell Bio 13: 470–477
Cooper MK, Wassif CA, Krakowiak PA, Taipale J, Gong R, Kelley RI, Porter FD, Beachy PA 2003 A defective response to Hedgehog signaling in disorders of cholesterol biosynthesis. Nat Genet 33: 508–513
Jira PE, Wevers RA, De Jong J, Rubio-Gonzalbo E, Janssen-Zijlstra FS, van Heyst AF, Sengers RC, Smeitink JA 2000 Simvastatin. A new therapeutic approach for Smith-Lemli-Opitz syndrome. J Lipid Rsh 41: 1339–1346
Irons M, Elias ER, Abuelo D, Bull MJ, Greene CL, Johnson VP, Keppen L, Schanen C, Tint GS, Salen G 1997 Treatment of Smith-Lemli-Opitz syndrome: results of a multicenter trial. Am J Med Genet 68: 311–314
Elias ER, Irons MB, Hurley AD, Tint GS, Salen G 1997 Clinical effects of cholesterol supplementation in six patients with the Smith-Lemli-Opitz syndrome (SLOS). Am J Med Genet 68: 305–310
Linck LM, Lin DS, Flavell D, Connor WE, Steiner RD 2000 Cholesterol supplementation with egg yolk increases plasma cholesterol and decreases plasma 7-dehydrocholesterol in Smith-Lemli-Opitz syndrome. Am J Med Genet 93: 360–365
Ros E 2000 Intestinal absorption of triglyceride and cholesterol. Dietary and pharmacological inhibition to reduce cardiovascular risk. Atherosclerosis 151: 357–379
Merkins LS, Connor WE, Linck LM, Lin DS, Flavell DP, Steiner RD 2004 Effects of dietary cholesterol on plasma lipoproteins in Smith-Lemli-Opitz syndrome. Pediatr Res 56: 726–732
Caruso PA, Poussaint TY, Tzika AA, Zurakowski D, Astrakas LG, Elias ER, Bay C, Irons MB 2004 MRI and (1)H MRS findings in Smith-Lemli-Opitz syndrome. Neuroradiology 46: 3–14
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Irons, M. Cholesterol in Childhood: Friend or Foe?: Commentary on the article by Merkens et al. on page 726. Pediatr Res 56, 679–681 (2004). https://doi.org/10.1203/01.PDR.0000146398.61649.74
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DOI: https://doi.org/10.1203/01.PDR.0000146398.61649.74
