| ML II | Mucolipidosis type II |
| EC | Enzyme Commission number |
| M6P | mannose 6-phosphate |
| DBS | Dry Blood Spot |
| WES | whole-exome sequencing |
| HS | Heparan sulfate |
| DS | Dermatan sulfate |
| LC-MS/MS | Liquid Chromatography-Mass Spectrometry |
| PTH | Parathyroid Hormone |
| DUS | Dried urine Spot |
| ASMD | Acid sphingomyelinase |
| IDUA | α-Iduronidase |
| IDS | Iduronate-2-sulfatase |
| NAGLU | α-N-acetylglucosaminidase |
| ARSB | Arylsulfatase B |
| GUSB | β-Glucuronidase |
| GALC | Galactocerebrosidase |
| GAA | α-Glucosidase |
| GLA | α-Galactosidase |
| GBA | β-Glucosidase |
| GALNS | Galactose-6-sulfatase |
| GLB1 | β-Galactosidase |
| HN | Healthy Neonates |
| MDPI | Multidisciplinary Digital Publishing Institute |
| DOAJ | Directory of open access journals |
| TLA | Three letter acronym |