Elias ER - Search Results

1

Treatment of Smith-Lemli-Opitz syndrome: results of a multicenter trial.

Irons M, Elias ER, Abuelo D, Bull MJ, Greene CL, Johnson VP, Keppen L, Schanen C, Tint GS, Salen G. Irons M, et al. Among authors: elias er. Am J Med Genet. 1997 Jan 31;68(3):311-4. Am J Med Genet. 1997. PMID: 9024565 Clinical Trial.

2

Rod photoreceptor responses in children with Smith-Lemli-Opitz syndrome.

Elias ER, Hansen RM, Irons M, Quinn NB, Fulton AB. Elias ER, et al. Arch Ophthalmol. 2003 Dec;121(12):1738-43. doi: 10.1001/archopht.121.12.1738. Arch Ophthalmol. 2003. PMID: 14662594

3

Abnormal cholesterol metabolism in the Smith-Lemli-Opitz syndrome: report of clinical and biochemical findings in four patients and treatment in one patient.

Irons M, Elias ER, Tint GS, Salen G, Frieden R, Buie TM, Ampola M. Irons M, et al. Among authors: elias er. Am J Med Genet. 1994 May 1;50(4):347-52. doi: 10.1002/ajmg.1320500409. Am J Med Genet. 1994. PMID: 8209913

4

Abnormal cholesterol metabolism in Smith-Lemli-Opitz syndrome.

Elias ER, Irons M. Elias ER, et al. Curr Opin Pediatr. 1995 Dec;7(6):710-4. doi: 10.1097/00008480-199512000-00015. Curr Opin Pediatr. 1995. PMID: 8776024 Review.

5

Clinical effects of cholesterol supplementation in six patients with the Smith-Lemli-Opitz syndrome (SLOS).

Elias ER, Irons MB, Hurley AD, Tint GS, Salen G. Elias ER, et al. Am J Med Genet. 1997 Jan 31;68(3):305-10. doi: 10.1002/(sici)1096-8628(19970131)68:3<305::aid-ajmg11>3.0.co;2-x. Am J Med Genet. 1997. PMID: 9024564 Clinical Trial.

6

Spectrum of Delta(7)-dehydrocholesterol reductase mutations in patients with the Smith-Lemli-Opitz (RSH) syndrome.

Yu H, Lee MH, Starck L, Elias ER, Irons M, Salen G, Patel SB, Tint GS. Yu H, et al. Among authors: elias er. Hum Mol Genet. 2000 May 22;9(9):1385-91. doi: 10.1093/hmg/9.9.1385. Hum Mol Genet. 2000. PMID: 10814720

7

Cone ERG responses in patients with Smith-Lemli-Opitz Syndrome (SLOS).

Garry D, Hansen RM, Moskowitz A, Elias ER, Irons M, Fulton AB. Garry D, et al. Among authors: elias er. Doc Ophthalmol. 2010 Oct;121(2):85-91. doi: 10.1007/s10633-010-9232-3. Epub 2010 May 4. Doc Ophthalmol. 2010. PMID: 20440536 Free PMC article.

8

Markedly inhibited 7-dehydrocholesterol-delta 7-reductase activity in liver microsomes from Smith-Lemli-Opitz homozygotes.

Shefer S, Salen G, Batta AK, Honda A, Tint GS, Irons M, Elias ER, Chen TC, Holick MF. Shefer S, et al. Among authors: elias er. J Clin Invest. 1995 Oct;96(4):1779-85. doi: 10.1172/JCI118223. J Clin Invest. 1995. PMID: 7560069 Free PMC article.

9

Correlation of severity and outcome with plasma sterol levels in variants of the Smith-Lemli-Opitz syndrome.

Tint GS, Salen G, Batta AK, Shefer S, Irons M, Elias ER, Abuelo DN, Johnson VP, Lambert M, Lutz R, et al. Tint GS, et al. Among authors: elias er. J Pediatr. 1995 Jul;127(1):82-7. doi: 10.1016/s0022-3476(95)70261-x. J Pediatr. 1995. PMID: 7608816

10

Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz syndrome.

Tint GS, Irons M, Elias ER, Batta AK, Frieden R, Chen TS, Salen G. Tint GS, et al. Among authors: elias er. N Engl J Med. 1994 Jan 13;330(2):107-13. doi: 10.1056/NEJM199401133300205. N Engl J Med. 1994. PMID: 8259166 Free article.

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