Boer, A.M.

activity disease patient blood blood spots assay enzyme deficiency lysosomal muscle haemolytic anaemia phosphoglycerate pompe disease precipitation substrate screening kinase lysosomal enzyme activities control lysosomal storage disorders signal storage pgk deficiency diagnosis hemoglobin haemolytic pompe anaemia tca precipitation exercise fl uorescence units sample /punch range galactosidase metab glycogenosi leukocyte uorescence fl uorescence activity ranges hexosaminidase β- hexosaminidase myoglobinuria arti ficial substrates fi lter paper keutzer methylumbelliferone genet method tandem mass spectrometry lysosomal storage diseases measurement genetic procedure punch van diggelen brother phosphoglycerate kinase protein glucosidase result disorder metabolism circle blood spot assays enzyme assay erasmus mc thioesterase /v ice-cold solution oemardien 4 ° c 60 μ l tay –sachs disease lysosomal enzyme assays university hospital blood spot assay mcardle separation palmitoyl-protein