Diagnostische bepalingen
- AcetylCoA-glucosamine acetyltransferase
- Acyl-CoA oxidase (ACOX1)
- Adenosine Deaminase (ADA)
- Adenosine deaminase 2 (ADA2)
- α-D-galactosidase
- α-D-glucosidase
- α-D-mannosidase
- α-L-fucosidase
- α-L-iduronidase
- Aromatisch aminozuur decarboxylase (AADC) *
- Arylsulfatase A
- Arylsulfatase A+B
- Arylsulfatase B
- Aspartylglucosaminidase
- β-D-galactosidase (GM1 gangliosidose)
- β-D-galactosidase (Morquio B)
- β-D-glucosidase (Gaucher)
- β-D-glucuronidase (MPS Type VII)
- β-D-mannosidase
- β-ketothiolase (2-methyl-acetoacetyl-CoA specifiek)
- Biotinidase
- Carnitine/acylcarnitine transporter (CACT)
- Carnitine palmitoyltransferase 1 (CPT1)
- Carnitine palmitoyltransferase 2 (CPT2)
- Chitotriosidase (Gaucher)
- Complementatie analyse
- D-Bifunctional protein (DBP/MFP2)
- Dihydropyrimidine dehydrogenase (DPD)
- Dihydroxyacetonfosfaat-acyltransferase (DHAPAT)
- Fatty aldehyde dehydrogenase (FALDH)
- Filipinekleuring
- Fosforibosyl pyrofosfaat synthetase (PRPPs)
- Fytaanzuur α-oxidatie
- Galactocerebrosidase
- Galactokinase (GALK)
- Galactose-1-fosfaat
- Galactose-1-fosfaat uridyltransferase (GALT)
- Glucose 6-fosfaat dehydrogenase (G6PD)
- Glutaryl-CoA dehydrogenase (GCDH)
- Glyoxylaat reductase (GR) *
- 3-Hydroxy-isobutyraat dehydrogenase (HIBADH)
- 3-Hydroxy-isobutyryl-CoA hydrolase (HIBCH)
- 3-Hydroxy-3-methylglutaryl-CoA lyase (HMGCoA lyase)
- Hypoxanthine-guanine fosforibosyl-transferase (HGPRT)
- Iduronate sulfatase
- Immunoblot peroxisomale eiwitten
- Immunofluorescentie ALD-eiwit (ALDP)
- Immunofluorescentie catalase
- Isovaleryl-CoA dehydrogenase (IVD)
- Kort-keten 3-hydroxy-acyl-CoA dehydrogenase (SCHAD)
- Kort-keten acyl-CoA dehydrogenase (SCAD)
- Kort-keten enoyl-CoA hydratase/Crotonase (ECHS1)
- Kort-vertakt-keten acyl-CoA dehydrogenase (SBCAD)
- Lang-keten 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiëntie
- 3-Methyl-crotonyl-CoA carboxylase (MCC)
- 3-Methyl-glutaconyl-CoA hydratase (MGH)
- 2-Methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD)
- Methylmalonaat semialdehyde dehydrogenase (MMSDH)
- Mevalonaat kinase (MVK)
- Midden-lang keten acyl-CoA dehydrogenase (MCAD)
- Mitochondrial trifunctional protein (MTP) deficiëntie
- Myristaat β-oxidatie (flux assay)
- N-acetyl-α-D-galactosaminidase
- N-acetyl-α-D-glucosaminidase
- N-acetyl-α-D-neuraminidase
- N-acetyl-β-D-glucosaminidase
- N-acetyl-β-D-glucosaminidase A
- N-acetyl-β-D-glucosaminidase A+B
- N-acetylgalactosamine-6-sulfatase
- N-acetylglucosamine-6-sulfatase
- Oleaat β-oxidatie (flux assay)
- Ornithine aminotransferase (OAT)
- Palmitaatbelastingtest (acylcarnitine profilering)
- Palmitoyl-protein thioesterase
- Peroxisomaal thiolase vertakt-keten specifiek (SCPx)
- Peroxisomale β-oxidatie
- Plasmalogenen
- Plasmamembraan carnitinetransporter (OCTN2)
- Propionyl-CoA carboxylase (PCC)
- Protective protein / Cathepsine A
- Purine nucleoside fosforylase (PNP)
- Pyruvaat kinase (PK)
- Sfingomyelinase
- Steroidsulfatase (arylsulfatase C, ARYC)
- Sterol profilering *
- Succinyl-CoA: 3-oxozuur transferase (SCOT)
- Sulfamidase
- Thiopurine methyltransferase (TPMT)
- Thymidine fosforylase (TP)
- Tripeptidyl peptidase I
- Uridine-difosfaat galactose epimerase (GALE)
- Zeer lang-keten acyl-CoA dehydrogenase (VLCAD)
- Zure Lipase