Bepalingen (a-z)
A
- AcetylCoA-glucosamine acetyltransferase
- Acyl-CoA oxidase (ACOX1)
- Acylcarnitine: Isomeren scheiding *
- Acylcarnitines
- Adenosine Deaminase (ADA)
- Adenosine deaminase 2 (ADA2)
- alfa-Aminoadipine semialdehyde (α-ASA)
- α-D-galactosidase
- α-D-glucosidase
- α-D-mannosidase
- α-L-fucosidase
- α-L-iduronidase
- α-methylacyl-CoA racemase deficiëntie (AMACR)
- Aminozuren
- Aromatisch aminozuur decarboxylase (AADC) *
- Arylsulfatase A
- Arylsulfatase A+B
- Arylsulfatase B
- Aspartylglucosaminidase
B
C
- Cardiolipines
- Carnitine/acylcarnitine transporter (CACT)
- Carnitine biosynthese intermediairen *
- Carnitine palmitoyltransferase 1 (CPT1)
- Carnitine palmitoyltransferase 2 (CPT2)
- Ceramidetrihexoside (CTH, Gb3) *
- C26:0-carnitine
- Chitotriosidase (Gaucher)
- Cholestanol
- C26:0-Lyso-PC (fibroblasten)
- C26:0-Lyso-PC (bloed)
- Complementatie analyse
D
E
F
G
H
I
J
K
L
M
- Malondialdehyde *
- 3-Methyl-crotonyl-CoA carboxylase (MCC)
- 3-Methyl-glutaconyl-CoA hydratase (MGH)
- 2-Methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD)
- Methylmalonaat semialdehyde dehydrogenase (MMSDH)
- Methylmalonzuur
- 5-Methyltetrahydrofolaat
- Mevalonaat kinase (MVK)
- Mevalonzuur
- Midden-lang keten acyl-CoA dehydrogenase (MCAD)
- Mitochondrial trifunctional protein (MTP) deficiëntie
- Myristaat β-oxidatie (flux assay)
N
O
P
- Palmitoyl-protein thioesterase
- Peroxisomaal thiolase vertakt-keten specifiek (SCPx)
- Peroxisomale β-oxidatie
- Pipecolinezuur
- Plasmalogenen
- Plasmalogenen
- Plasmamembraan carnitinetransporter (OCTN2)
- Polyolen en suikers
- Propionyl-CoA carboxylase (PCC)
- Protective protein / Cathepsine A
- Pterinen
- Purine nucleoside fosforylase (PNP)
- Purinen
- Pyridoxalfosfaat (B6 vitameren)
- Pyrimidine biosynthese intermediairen*
- Pyrimidinen
- Pyruvaat kinase (PK)