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Smith-Lemli-Opitz syndrome and inborn errors of cholesterol synthesis: summary of the 2007 SLO/RSH Foundation scientific conference sponsored by the National Institutes of Health.
Merkens LS, Wassif C, Healy K, Pappu AS, DeBarber AE, Penfield JA, Lindsay RA, Roullet JB, Porter FD, Steiner RD. Merkens LS, et al. Among authors: steiner rd. Genet Med. 2009 May;11(5):359-64. doi: 10.1097/GIM.0b013e31819b246e. Genet Med. 2009. PMID: 19452638 Free PMC article.
Smith-Lemli-Opitz syndrome.
DeBarber AE, Eroglu Y, Merkens LS, Pappu AS, Steiner RD. DeBarber AE, et al. Among authors: steiner rd. Expert Rev Mol Med. 2011 Jul 22;13:e24. doi: 10.1017/S146239941100189X. Expert Rev Mol Med. 2011. PMID: 21777499 Free PMC article. Review.
A useful multi-analyte blood test for cerebrotendinous xanthomatosis.
DeBarber AE, Luo J, Giugliani R, Souza CF, Chiang JP, Merkens LS, Pappu AS, Steiner RD. DeBarber AE, et al. Among authors: steiner rd. Clin Biochem. 2014 Jun;47(9):860-3. doi: 10.1016/j.clinbiochem.2014.04.017. Epub 2014 Apr 21. Clin Biochem. 2014. PMID: 24769274 Free PMC article.
195 results