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Research Pediatrics

University Medical Center Groningen

Enzyme Diagnostics

Sfingolipidosen	Disease/Ziekte
Arylsulfatase A	MLD
β- D- galactosidase	Morquio-B GM1
α- D- galactosidase	Fabry
β- Hexosaminidase A + B	GM2 Sandhoff
β- Hexosaminidase A	GM2 Tay-Sachs
β-glucosidase	Gaucher
Sphingomyelinase	Niemann Pick A,B

Sfingolipidosen (speciaal)	Disease/Ziekte
N- acetyl-α- D- galactosaminidase	Schindler
Galactocerebrosidase	Krabbe

Mucolipidosen

Disease/Ziekte

α- D- mannosidase

ML II &MIII , I-cell/ Pseudo-Hurler

Mannosidose A+B

Mucopolysaccharidosen	Disease/Ziekte
Arylsulfatase B	Maroteaux-Lamy
β- D-glucuronidase	MPS type VII , Sly
α- L- iduronidase	Hurler en Scheie
N- acetyl-α- D- glucosaminidase	Sanfilippo type B, Mps-III

Oligosaccharidosen	Disease/Ziekte
α- L- Fucosidase	Fucosidosis
α- D- Mannosidase	Mannosidosis

Aminozuren/organische zuren stofwisseling
Dihydropteridine reductase
Succinyl:acetoacetyl-CoA transferase
Biotinidase

Mitochondriale beta -oxidatie
Acyl-CoA dehydrogenase MCAD
Acyl-CoA dehydrogenase: (V)LCAD
3-oxo-acyl-CoA thiolase
Overall β- oxidatie met Myristinezuur en Palmitaat

Oxidatieve fosforylering
Citraatsynthetase
NADH-Q1 oxidoreductase (complex I)
Cytochroom C oxidase (complex IV)

Koolhydraatstofwisseling	Disease/Ziekte
α- glucosidase lysosomaal	GSD II , Pompe Pompe-2
Galactokinase
Galactose-1-P uridyl transferase	Galactosemie

Last modified:07 January 2021 2.27 p.m.

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