| CSF | cerebrospinal fluid |
| DBS | dried blood spots |
| DD | differential diagnosis |
| HMDB | Human Metabolome Database |
| IEM | inborn error of metabolism |
| m/z | mass to charge ratio |
| NGMS | next generation metabolic screening |
| OMIM | Online Mendelian Inheritance in Man |
| CSF | cerebrospinal fluid |
| DBS | dried blood spots |
| DD | differential diagnosis |
| HMDB | Human Metabolome Database |
| IEM | inborn error of metabolism |
| m/z | mass to charge ratio |
| NGMS | next generation metabolic screening |
| OMIM | Online Mendelian Inheritance in Man |