| 2,4-(S)-HC | 2,4(S)-hydroxycholesterol |
| AUROC | Area Under Receiver Operating Characteristic |
| BBB | Blood-Brain Barrier |
| BCAA | Branched chain amino acid |
| CNS | Central Nervous System |
| CSF | Cerebrospinal Fluid |
| DBS | Dried Blood Spot |
| ERT | Enzyme Replacement Therapy |
| ESI | Electrospray Ionisation |
| FD | Fabry Disease |
| FDR | False discovery rate |
| GD | Gaucher’s Disease |
| HPLC-LS | High Performance Liquid Chromatography-Light Scattering |
| HPβCD | Hydroxypropyl-β-Cyclodextrin |
| ISB | Intelligent Selected Bucket |
| KD | Krabbe Disease |
| LC-MS | Liquid Chromatography-Mass Spectrometry |
| LDL | Low-density lipoprotein |
| LSD | Lysosomal Storage Disorder |
| Lyso-Gb3 | Globotriaosylsphingosine |
| MAS | Magic Angle Spinning |
| MS | Mass Spectrometry |
| MV | Multivariate |
| NMR | Nuclear Magnetic Resonance |
| NP | Niemann-Pick Disease |
| NPA | Niemann-Pick Disease Type A |
| NPB | Niemann-Pick Disease Type B |
| NPC1 | Niemann-Pick Disease Type C1 |
| NPC2 | Niemann-Pick Disease Type C2 |
| PLS-DA | Partial Least Squares-Discriminant Analysis |
| SEM | Standard Error of the Mean |
| SRT | Substrate Reduction Therapy |
| TAG | Triacylglycerol |
| TLC | Thin Layer Chromatography |
| VIP | Variable Importance Projection |
| vLDL | Very-low-density lipoprotein. |