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Items: 1 to 20 of 108

1.

Malformation syndromes caused by disorders of cholesterol synthesis.

Porter FD, Herman GE.

J Lipid Res. 2011 Jan;52(1):6-34. doi: 10.1194/jlr.R009548. Epub 2010 Oct 7. Review.

2.

Sterol metabolism disorders and neurodevelopment-an update.

Kanungo S, Soares N, He M, Steiner RD.

Dev Disabil Res Rev. 2013;17(3):197-210. doi: 10.1002/ddrr.1114. Review.

PMID:
23798009
3.

Human malformation syndromes due to inborn errors of cholesterol synthesis.

Porter FD.

Curr Opin Pediatr. 2003 Dec;15(6):607-13. Review.

PMID:
14631207
4.

Cholesterol metabolism deficiency.

Jira P.

Handb Clin Neurol. 2013;113:1845-50. doi: 10.1016/B978-0-444-59565-2.00054-X. Review.

PMID:
23622407
5.
6.

Disorders of sterol synthesis: beyond Smith-Lemli-Opitz syndrome.

Herman GE, Kratz L.

Am J Med Genet C Semin Med Genet. 2012 Nov 15;160C(4):301-21. doi: 10.1002/ajmg.c.31340. Epub 2012 Oct 5. Review.

PMID:
23042573
7.

Disorders of post-squalene cholesterol biosynthesis leading to human dysmorphogenesis.

Andersson HC.

Cell Mol Biol (Noisy-le-grand). 2002 Mar;48(2):173-7. Review.

PMID:
11990452
8.

Disorders of cholesterol metabolism and their unanticipated convergent mechanisms of disease.

Platt FM, Wassif C, Colaco A, Dardis A, Lloyd-Evans E, Bembi B, Porter FD.

Annu Rev Genomics Hum Genet. 2014;15:173-94. doi: 10.1146/annurev-genom-091212-153412.

PMID:
25184529
9.

Inborn errors of cholesterol biosynthesis.

Kelley RI.

Adv Pediatr. 2000;47:1-53. Review.

PMID:
10959439
10.

Lathosterolosis: an inborn error of human and murine cholesterol synthesis due to lathosterol 5-desaturase deficiency.

Krakowiak PA, Wassif CA, Kratz L, Cozma D, Kovárová M, Harris G, Grinberg A, Yang Y, Hunter AG, Tsokos M, Kelley RI, Porter FD.

Hum Mol Genet. 2003 Jul 1;12(13):1631-41.

PMID:
12812989
11.

Cholesterol precursors and facial clefting.

Porter FD.

J Clin Invest. 2006 Sep;116(9):2322-5.

12.

Radiographic features of the skeleton in disorders of post-squalene cholesterol biosynthesis.

Rossi M, Hall CM, Bouvier R, Collardeau-Frachon S, Le Breton F, Bucourt M, Cordier MP, Vianey-Saban C, Parenti G, Andria G, Le Merrer M, Edery P, Offiah AC.

Pediatr Radiol. 2015 Jul;45(7):965-76. doi: 10.1007/s00247-014-3257-9. Epub 2015 Feb 3. Review.

PMID:
25646736
13.

Quantitative proteomics analysis of inborn errors of cholesterol synthesis: identification of altered metabolic pathways in DHCR7 and SC5D deficiency.

Jiang XS, Backlund PS, Wassif CA, Yergey AL, Porter FD.

Mol Cell Proteomics. 2010 Jul;9(7):1461-75. doi: 10.1074/mcp.M900548-MCP200. Epub 2010 Mar 19.

14.

Inherited disorders of cholesterol biosynthesis.

Haas D, Kelley RI, Hoffmann GF.

Neuropediatrics. 2001 Jun;32(3):113-22. Review.

PMID:
11521206
15.

Cholesterol metabolism in the RSH/Smith-Lemli-Opitz syndrome: summary of an NICHD conference.

Opitz JM, de la Cruz F.

Am J Med Genet. 1994 May 1;50(4):326-38.

PMID:
7632194
16.

Genetic defects in postsqualene cholesterol biosynthesis.

Moebius FF, Fitzky BU, Glossmann H.

Trends Endocrinol Metab. 2000 Apr;11(3):106-14. Review. Erratum in: Trends Endocrinol Metab 2000 May-Jun;11(4):150.

PMID:
10707051
17.

Abnormal sterol metabolism in patients with Conradi-Hünermann-Happle syndrome and sporadic lethal chondrodysplasia punctata.

Kelley RI, Wilcox WG, Smith M, Kratz LE, Moser A, Rimoin DS.

Am J Med Genet. 1999 Mar 19;83(3):213-9. Erratum in: Am J Med Genet 1999 Jun 4;84(4):387.

18.

Living with inborn errors of cholesterol biosynthesis: lessons from adult patients.

Cardoso ML, Barbosa M, Serra D, Martins E, Fortuna A, Reis-Lima M, Bandeira A, Balreira A, Marques F.

Clin Genet. 2014 Feb;85(2):184-8. doi: 10.1111/cge.12139. Epub 2013 Apr 5.

PMID:
23509885
19.

Disorders of cholesterol biosynthesis: prototypic metabolic malformation syndromes.

Herman GE.

Hum Mol Genet. 2003 Apr 1;12 Spec No 1:R75-88. Review.

PMID:
12668600
20.

The Smith-Lemli-Opitz syndrome.

Kelley RI, Hennekam RC.

J Med Genet. 2000 May;37(5):321-35. Review.

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