- Metabolite
- HMDB0000121 (Folic acid)
- Biospecimen
- Cerebrospinal Fluid (CSF)
- Status
- Detected and Quantified
- Data source
- Referenced
- Concentration
- 0.00612 uM
- Age
- Children (1-13 years old)
- Sex
- Male
- Condition
- Hereditary folate malabsorption
References
- Meyer E, Kurian MA, Pasha S, Trembath RC, Cole T, Maher ER: A novel PCFT gene mutation (p.Cys66LeufsX99) causing hereditary folate malabsorption. Mol Genet Metab. 2010 Mar;99(3):325-8. doi: 10.1016/j.ymgme.2009.11.004. Epub 2009 Nov 16. [PubMed:20005757 ]