- Metabolite
- HMDB0000067 (Cholesterol)
- Biospecimen
- Cerebrospinal Fluid (CSF)
- Status
- Detected and Quantified
- Data source
- Referenced
- Concentration
- 1.1 uM
- Age
- Infant (0-1 year old)
- Sex
- Both
- Condition
- Smith-Lemli-Opitz syndrome
References
- van Rooij A, Nijenhuis AA, Wijburg FA, Schutgens RB: Highly increased CSF concentrations of cholesterol precursors in Smith-Lemli-Opitz syndrome. J Inherit Metab Dis. 1997 Aug;20(4):578-80. [PubMed:9266395 ]