tests
- Glycogenosis
- α-D-glucosidase (Glycogenosis type II (Pompe))
- Mucolipidoses
- N-acetyl-α-D-neuraminidase (Mucolipidosis type I, Sialidosis)
- N-acetyl-β-D-glucosaminidase (Mucolipidosis type II en III, I-cell disease, pseudo-Hurler polydystrophy)
- Mucopolysaccharidoses
- α-L-iduronidase (MPS Type IH/IS (Hurler/Scheie))
- Iduronate sulfatase (MPS Type II (Hunter))
- Sulfamidase (MPS Type III A (Sanfilippo A))
- N-acetyl-α-D-glucosaminidase (MPS Type III B (Sanfilippo B))
- AcetylCoA-glucosamine acetyltransferase (MPS Type III C (Sanfilippo C))
- N-acetylglucosamine-6-sulfatase (MPS Type III D (Sanfilippo D))
- N-acetylgalactosamine-6-sulfatase (MPS Type IV A (Morquio A))
- β-D-galactosidase (MPS Type IV B (Morquio B))
- Arylsulfatase B (MPS Type VI (Maroteaux-Lamy))
- β-D-glucuronidase (MPS Type VII (Sly))
- Neuronal Ceroid Lipofuscinoses
- Palmitoyl-protein thioesterase (NCL type I / Infantile NCL)
- Tripeptidyl peptidase I (NCL type II / Late infantile NCL)
- Oligosaccharidoses
- α-L-fucosidase (Fucosidosis)
- α-D-mannosidase (α-Mannosidosis)
- β-D-mannosidase (β-Mannosidosis)
- N-acetyl-α-D-galactosaminidase (Schindler / Kanzaki)
- Aspartylglucosaminidase (Aspartylglucosaminuria)
- Protective protein / Cathepsine A (Galactosialidosis)
- Sphingolipidoses
- Arylsulfatase A (Metachromatic leukodystrophy)
- Arylsulfatase A+B (Multiple sulfatase deficiency/ Mucosulfatidosis)
- α-D-galactosidase (Fabry)
- β-D-galactosidase (GM1 gangliosidosis)
- N-acetyl-β-D-glucosaminidase A (Tay-Sachs / GM2 gangliosidosis B variant)
- N-acetyl-β-D-glucosaminidase A+B (Sandhoff / GM2 gangliosidosis 0 variant)
- Sphingomyelinase (Niemann-Pick Type A/B)
- Filipine staining (Niemann-Pick Type C)
- β-D-glucosidase (Gaucher)
- Chitotriosidase (Gaucher)
- Galactocerebrosidase (Krabbe)
- Ceramidase (Farber)
- Acid Lipase (Wolman / Cholesteryl ester storage disease)