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Page 1
Smith-Lemli-Opitz syndrome.
DeBarber AE, Eroglu Y, Merkens LS, Pappu AS, Steiner RD. DeBarber AE, et al. Expert Rev Mol Med. 2011 Jul 22;13:e24. doi: 10.1017/S146239941100189X. Expert Rev Mol Med. 2011. PMID: 21777499 Free PMC article. Review.
Treatment of Smith-Lemli-Opitz syndrome and other sterol disorders.
Svoboda MD, Christie JM, Eroglu Y, Freeman KA, Steiner RD. Svoboda MD, et al. Am J Med Genet C Semin Med Genet. 2012 Nov 15;160C(4):285-94. doi: 10.1002/ajmg.c.31347. Epub 2012 Oct 5. Am J Med Genet C Semin Med Genet. 2012. PMID: 23042642 Free PMC article. Review.
Normal IQ is possible in Smith-Lemli-Opitz syndrome.
Eroglu Y, Nguyen-Driver M, Steiner RD, Merkens L, Merkens M, Roullet JB, Elias E, Sarphare G, Porter FD, Li C, Tierney E, Nowaczyk MJ, Freeman KA. Eroglu Y, et al. Am J Med Genet A. 2017 Aug;173(8):2097-2100. doi: 10.1002/ajmg.a.38125. Epub 2017 Mar 27. Am J Med Genet A. 2017. PMID: 28349652 Free PMC article.
The effects of sterol structure upon sterol esterification.
Lin DS, Steiner RD, Merkens LS, Pappu AS, Connor WE. Lin DS, et al. Atherosclerosis. 2010 Jan;208(1):155-60. doi: 10.1016/j.atherosclerosis.2009.07.031. Epub 2009 Jul 23. Atherosclerosis. 2010. PMID: 19679306 Free PMC article.
19 results