Concepedia

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

Louise S. Merkens, Christopher A. Wassif, Kristy Healy, Anuradha S. Pappu, Andrea E. DeBarber, Jennifer A. Penfield, Rebecca A. Lindsay, Jean Baptiste Roullet, Forbes D. Porter, Robert D. Steiner

Genetics in Medicine · 2009 · 18 citations · 27 references

DOIFull text

Open access

Concepts

References

27

Niemann-Pick disease type C1 is a sphingosine storage disease that causes deregulation of lysosomal calcium

Emyr Lloyd‐Evans, Anthony J. Morgan, Xingxuan He et al. · Nature Medicine · 2008 · 825 citations

, , +10

Defective Cholesterol Biosynthesis Associated with the Smith-Lemli-Opitz Syndrome

G S Tint, Mira Irons, Ellen Roy Elias et al. · New England Journal of Medicine · 1994 · 810 citations · Full text

A defective response to Hedgehog signaling in disorders of cholesterol biosynthesis

Michael K. Cooper, Christopher A. Wassif, Patrycja A. Krakowiak et al. · Nature Genetics · 2003 · 394 citations · Full text

, , +12

Adverse Birth Outcome Among Mothers With Low Serum Cholesterol

Robin J. Edison, Kate Berg, Alan T. Remaley et al. · PEDIATRICS · 2007 · 188 citations

Unesterified plant sterols and stanols lower LDL-cholesterol concentrations equivalently in hypercholesterolemic persons

Catherine A. Vanstone, Mahmoud Raeini−Sarjaz, William E. Parsons et al. · American Journal of Clinical Nutrition · 2002 · 171 citations

, , +8