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Malformation syndromes due to inborn errors of cholesterol synthesis

J Clin Invest. 2002 Sep;110(6):715-24. doi: 10.1172/JCI16386.
No abstract available

Publication types

  • Review

MeSH terms

  • Abnormalities, Multiple* / genetics
  • Abnormalities, Multiple* / metabolism
  • Central Nervous System / metabolism
  • Cholesterol / biosynthesis*
  • Humans
  • Metabolism, Inborn Errors* / genetics
  • Molecular Structure
  • Syndrome

Substances

  • Cholesterol