
Determination of CSF 5-methyltetrahydrofolate in children and its application for defects of folate transport and metabolism
Keywords: 5MTHF, 5-methyltetrahydrofolate; CFD, cerebral folate deficiency; CSF, cerebrospinal fluid; FRα, folate receptor alpha; MTHFR, methylenetetrahydrofolate reductaseReference value; FOLR1 gene mutation; MTHFR deficiency; High-performance liquid chromatograph