Merkens LS - Search Results

1

Feeding impairments associated with plasma sterols in Smith-Lemli-Opitz syndrome.

Merkens MJ, Sinden NL, Brown CD, Merkens LS, Roullet JB, Nguyen T, Steiner RD. Merkens MJ, et al. Among authors: merkens ls. J Pediatr. 2014 Oct;165(4):836-41.e1. doi: 10.1016/j.jpeds.2014.06.010. Epub 2014 Jul 16. J Pediatr. 2014. PMID: 25039049 Free PMC article.

2

Elevated Autophagy and Mitochondrial Dysfunction in the Smith-Lemli-Opitz Syndrome.

Chang S, Ren G, Steiner RD, Merkens L, Roullet JB, Korade Z, DiMuzio PJ, Tulenko TN. Chang S, et al. Mol Genet Metab Rep. 2014;1:431-442. doi: 10.1016/j.ymgmr.2014.09.005. Mol Genet Metab Rep. 2014. PMID: 25405082 Free PMC article.

3

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.

4

Cholesterol supplementation does not improve developmental progress in Smith-Lemli-Opitz syndrome.

Sikora DM, Ruggiero M, Petit-Kekel K, Merkens LS, Connor WE, Steiner RD. Sikora DM, et al. Among authors: merkens ls. J Pediatr. 2004 Jun;144(6):783-91. doi: 10.1016/j.jpeds.2004.02.036. J Pediatr. 2004. PMID: 15192627 Clinical Trial.

5

Effects of dietary cholesterol on plasma lipoproteins in Smith-Lemli-Opitz syndrome.

Merkens LS, Connor WE, Linck LM, Lin DS, Flavell DP, Steiner RD. Merkens LS, et al. Pediatr Res. 2004 Nov;56(5):726-32. doi: 10.1203/01.PDR.0000141522.14177.4F. Epub 2004 Aug 19. Pediatr Res. 2004. PMID: 15319461

6

The near universal presence of autism spectrum disorders in children with Smith-Lemli-Opitz syndrome.

Sikora DM, Pettit-Kekel K, Penfield J, Merkens LS, Steiner RD. Sikora DM, et al. Among authors: merkens ls. Am J Med Genet A. 2006 Jul 15;140(14):1511-8. doi: 10.1002/ajmg.a.31294. Am J Med Genet A. 2006. PMID: 16761297

7

Plasma plant sterol levels do not reflect cholesterol absorption in children with Smith-Lemli-Opitz syndrome.

Merkens LS, Jordan JM, Penfield JA, Lütjohann D, Connor WE, Steiner RD. Merkens LS, et al. J Pediatr. 2009 Apr;154(4):557-561.e1. doi: 10.1016/j.jpeds.2008.10.045. Epub 2008 Dec 21. J Pediatr. 2009. PMID: 19101685 Free PMC article.

8

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. Genet Med. 2009 May;11(5):359-64. doi: 10.1097/GIM.0b013e31819b246e. Genet Med. 2009. PMID: 19452638 Free PMC article.

9

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.

10

No evidence for mevalonate shunting in moderately affected children with Smith-Lemli-Opitz syndrome.

Roullet JB, Merkens LS, Pappu AS, Jacobs MD, Winter R, Connor WE, Steiner RD. Roullet JB, et al. Among authors: merkens ls. 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.

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