| ASMD | Acid sphingomyelinase deficiency |
| CESD | Cholesterol esterase storage disease |
| ERT | Enzyme replacement therapy |
| GAGs | Glycosaminoglycans |
| HSCT | Haematopoietic stem cell transplantation |
| HSM | Hepatosplenomegaly |
| IMDs | Inherited metabolic disorders |
| LSDs | Lysosomal storage diseases |
| NPC | Niemann–Pick disease type C |
| MPS | Mucopolysaccharidosis |
| TLC | Thin layer chromatography |
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