No evidence for mevalonate shunting in moderately affected children with Smith-Lemli-Opitz syndrome
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://link.springer.com/content/pdf/10.1007/s10545-012-9453-6
Reference37 articles.
1. Bataille KP, Steiner RD (2000) Smith-Lemli-Opitz syndrome: the first malformation syndrome associated with defective cholesterol synthesis. Mol Genet Metab 71:154–162
2. Chambers CM, McLean MP, Ness GC (1997) Smith-Lemli-Opitz syndrome produced in rats with AY 9944 treated by intravenous injection of lipoprotein cholesterol. Am J Med Genet 68:322–327
3. Cunniff C, Kratz LE, Moser A, Natowicz MR, Kelley RI (1997) Clinical and biochemical spectrum of patients with RSH/Smith-Lemli-Opitz syndrome and abnormal cholesterol metabolism. Am J Med Genet 68:263–269
4. Edmond J, Popják G (1974) Transfer of carbon atoms from mevalonate to n-fatty acids. J Biol Chem 249:66–71
5. Engelking LJ, Evers BM, Richardson JA, Goldstein JL, Brown MS, Liang G (2006) Severe facial clefting in Insig-deficient mouse embryos caused sterol accumulation and reversed by lovastatin. J Clin Invest 116:2356–2365
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