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No evidence for mevalonate shunting in moderately affected children with Smith-Lemli-Opitz syndrome.
J Inherit Metab Dis. 2012 Sep;35(5):859-69. doi: 10.1007/s10545-012-9453-6. Epub 2012 Mar 6.
J Inherit Metab Dis. 2012.
PMID: 22391996
Free PMC article.
Effects of dietary cholesterol and simvastatin on cholesterol synthesis in Smith-Lemli-Opitz syndrome.
Chan YM, Merkens LS, Connor WE, Roullet JB, Penfield JA, Jordan JM, Steiner RD, Jones PJ.
Chan YM, et al.
Pediatr Res. 2009 Jun;65(6):681-5. doi: 10.1203/PDR.0b013e31819ea4eb.
Pediatr Res. 2009.
PMID: 19430384
Free PMC article.
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Liquid chromatography-tandem mass spectrometry determination of plasma 24S-hydroxycholesterol with chromatographic separation of 25-hydroxycholesterol.
DeBarber AE, Lütjohann D, Merkens L, Steiner RD.
DeBarber AE, et al.
Anal Biochem. 2008 Oct 1;381(1):151-3. doi: 10.1016/j.ab.2008.05.037. Epub 2008 Jun 13.
Anal Biochem. 2008.
PMID: 18555788
Free PMC article.
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