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Keulemans, J.L.
( J.L. Keulemans)
assay patient activity enzyme deficiency step assay ceroid lipofuscinosis thioesterase fibroblast leucocyte palmitoyl-protein thioesterase protein palmitoyl-protein chorionic villi enzyme assay control fluorochrome 4- methylumbelliferone article mutation ceroid substrate galactosidase ppt deficiency reaction ppt activity lipofuscinosi disease palmitoyl-protein thioesterase activity lysosomal diagnosis analysis chorionic enzyme analysis villi amniocyte incubation hydrolyse thioester -6-thio galactoside variant ppt assay phosphate /citrate buver mu -6-thio c e catsman-berrevoets postnatal enzyme analysis lysosomal storage disorders mu -6s gal j kleijer cln 1 gene diggelen postnatal diagnosis palmitoyl-protein thioesterase deficiency lymphoblast mancini blood voznyi methylumbelliferone jmg.bmj.com postnatal november aspergillu downloaded keuleman control fibroblasts thioester bond fluid cells triangle reaction mixtures ppt activities incl patients genetic buver table exogenou incl patient genet fluorochrome palmitoyl method
1 Most Recent Publications
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A new simple enzyme assay for pre- and postnatal diagnosis of infantile neuronal ceroid lipofuscinosis (INCL) and its variants
(Article)
Voznyi, Y.V. Keulemans, J.L. Mancini, G.M.S. Catsman-Berrevoets, C.E. Young, E. Winchester, B. Kleijer, W.J. Diggelen, O.P. van |
1999-01-01
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