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

References

Page 1

	Year	Citations
Niemann-Pick disease type C1 is a sphingosine storage disease that causes deregulation of lysosomal calcium Emyr Lloyd‐Evans, Anthony J. Morgan, Xingxuan He, Nature Medicine Mendelian DisorderDisease MechanismGenetic DisorderMedicinePathogenesis	2008	825
Defective Cholesterol Biosynthesis Associated with the Smith-Lemli-Opitz Syndrome G S Tint, Mira Irons, Ellen Roy Elias, New England Journal of Medicine	1994	810
A defective response to Hedgehog signaling in disorders of cholesterol biosynthesis Michael K. Cooper, Christopher A. Wassif, Patrycja A. Krakowiak, Nature Genetics Cholesterol BiosynthesisSignal TransductionDevelopmental BiologyOxysterolCell Signaling	2003	394
Adverse Birth Outcome Among Mothers With Low Serum Cholesterol Robin J. Edison, Kate Berg, Alan T. Remaley, PEDIATRICS	2007	188
Unesterified plant sterols and stanols lower LDL-cholesterol concentrations equivalently in hypercholesterolemic persons Catherine A. Vanstone, Mahmoud Raeini−Sarjaz, William E. Parsons, American Journal of Clinical Nutrition Lipid DisorderOxysterolCardiovascular DiseaseHypercholesterolemic PersonsMedicine	2002	171
Identifying Smith–Lemli–Opitz syndrome in conjunction with prenatal screening for Down syndrome Wendy Y. Craig, James E. Haddow, Glenn E. Palomaki, Prenatal Diagnosis	2006	112
The use of the Dhcr7 knockout mouse to accurately determine the origin of fetal sterols G S Tint, Hongwei Yu, Quan Shang, Journal of Lipid Research	2006	96
Carrier Frequency of the Common Mutation IVS8-1G>C in DHCR7 and Estimate of the Expected Incidence of Smith–Lemli–Opitz Syndrome K.P. Battaile, Brian C. Battaile, Louise S. Merkens, Molecular Genetics and Metabolism Carrier FrequencyMendelian DisorderGenetic DisorderSmith–lemli–opitz SyndromeGenetics	2001	90
Micellar solubilisation of cholesterol is essential for absorption in humans L A Woollett Gut	2006	88
On the mechanism of cerebral accumulation of cholestanol in patients with cerebrotendinous xanthomatosis Ute Panzenboeck, Andersson Ulla, Magnus Hansson, Journal of Lipid Research	2007	70

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