Desmosterolosis: a new inborn error of cholesterol biosynthesis

P Clayton, K Mills, J Keeling, D FitzPatrick

Research output: Contribution to journalArticlepeer-review

Original languageEnglish
Pages (from-to)404
JournalThe Lancet
Volume348
Issue number9024
Publication statusPublished - 10 Aug 1996

Keywords

  • Abnormalities, Multiple
  • Cholesterol
  • Desmosterol
  • Female
  • Gas Chromatography-Mass Spectrometry
  • Humans
  • Infant, Newborn
  • Lipid Metabolism, Inborn Errors
  • Syndrome
  • Tissue Distribution

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