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Smith-Lemli-Opitz syndrome.
DeBarber AE, Eroglu Y, Merkens LS, Pappu AS, Steiner RD. DeBarber AE, et al. Among authors: merkens ls. 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: merkens ls. 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.
Profiling sterols in cerebrotendinous xanthomatosis: utility of Girard derivatization and high resolution exact mass LC-ESI-MS(n) analysis.
DeBarber AE, Sandlers Y, Pappu AS, Merkens LS, Duell PB, Lear SR, Erickson SK, Steiner RD. DeBarber AE, et al. Among authors: merkens ls. J Chromatogr B Analyt Technol Biomed Life Sci. 2011 May 15;879(17-18):1384-92. doi: 10.1016/j.jchromb.2010.11.019. Epub 2010 Nov 23. J Chromatogr B Analyt Technol Biomed Life Sci. 2011. PMID: 21168372 Free PMC article.
42 results