@article{haas.garbade.ea:effects,
  abstract = {Smith-Lemli-Opitz syndrome (SLOS) is a malformation
		  syndrome caused by deficiency of 7-dehydrocholesterol
		  reductase catalysing the last step of cholesterol
		  biosynthesis. This results in an accumulation of 7- and
		  8-dehydrocholesterol (7 + 8-DHC) and, in most patients, a
		  deficiency of cholesterol. Current therapy consists of
		  dietary cholesterol supplementation, which raises plasma
		  cholesterol levels, but clinical effects have been reported
		  in only a few patients. Hydroxymethylglutaryl-coenzyme A
		  (HMG-CoA) reductase inhibitors were shown to reduce 7 +
		  8-DHC levels and increase cholesterol concentrations in two
		  small trials with divergent clinical outcome. This
		  retrolective study evaluates the effects of cholesterol
		  only and of cholesterol plus the HMG-CoA reductase
		  inhibitor simvastatin on plasma sterols in 39 SLOS patients
		  and on anthropometric measures in 20 SLOS patients.
		  Cholesterol as well as additional simvastatin decreased the
		  plasma (7 + 8-DHC)/cholesterol ratio. However, the
		  mechanism leading to the decreasing ratio was different.
		  Whereas it was due to an increasing cholesterol
		  concentration in the cholesterol-only cohort, a decreasing
		  7 + 8-DHC concentration was demonstrated in the cohort
		  receiving additional simvastatin. We could not confirm a
		  positive effect of simvastatin treatment on anthropometric
		  measures or behaviour, as previously reported.},
  added-at = {2017-04-01T10:34:58.000+0200},
  author = {Haas, D. and Garbade, S. F. and Vohwinkel, C. and Muschol, N. and Trefz, F. K. and Penzien, J. M. and Zschocke, J. and Hoffmann, G. F. and Burgard, P.},
  biburl = {https://www.bibsonomy.org/bibtex/245f4b10e66eb98b07e5535b2c0f6b48f/sveng},
  doi = {10.1007/s10545-007-0537-7},
  institution = {Department of General Pediatrics, Division of Inborn
		  Metabolic Diseases, University Hospital for Pediatric and
		  Adolescent Medicine, Im Neuenheimer Feld 153, D-69120,
		  Heidelberg, Germany. dorothea.haas@med.uni-heidelberg.de},
  interhash = {a2a2c80786fa3c43d8636c635675fa67},
  intrahash = {45f4b10e66eb98b07e5535b2c0f6b48f},
  journaltitle = {Journal of Inherited Metabolic Disease},
  keywords = {/&/ Child; Cholesterol, Cohort Dietary Enteral Female; Genotype; Humans; Hydroxymethylglutaryl-CoA Inhibitors, Male; Nutrition; Reductase Simvastatin, Smith-Lemli-Opitz Studies; Supplements; Syndrome, administration dosage/therapeutic drug sfg therapeutic therapy/genetics use;},
  month = Jun,
  number = 3,
  owner = {sfg},
  pages = {375--387},
  pmid = {17497248},
  shortjournal = {J Inherit Metab Dis},
  timestamp = {2017-04-01T10:35:16.000+0200},
  title = {Effects of cholesterol and simvastatin treatment in
		  patients with Smith-Lemli-Opitz syndrome ({SLOS}).},
  url = {http://dx.doi.org/10.1007/s10545-007-0537-7},
  volume = 30,
  year = 2007
}