- Metabolite
- HMDB0000067 (Cholesterol)
- Biospecimen
- Blood
- Status
- Detected and Quantified
- Data source
- Referenced
- Concentration
- 4189.798 uM
- Age
- Children (1-13 years old)
- Sex
- Male
- Condition
- Desmosterolosis
References
- Andersson HC, Kratz L, Kelley R: Desmosterolosis presenting with multiple congenital anomalies and profound developmental delay. Am J Med Genet. 2002 Dec 15;113(4):315-9. doi: 10.1002/ajmg.b.10873. [PubMed:12457401 ]