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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

Laatst gewijzigd:09 januari 2018 07:50