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Results: 1-8 |
Results: 8
Human alpha-N-acetylgalactosaminidase (alpha-NAGA) deficiency: no association with neuroaxonal dystrophy?
Authors: Bakker, HD de Sonnaville, MLCS Vreken, P Abeling, NGGM Groener, JEM Keulemans, JLM van Diggelen, OP
Citation: Hd. Bakker et al., Human alpha-N-acetylgalactosaminidase (alpha-NAGA) deficiency: no association with neuroaxonal dystrophy?, EUR J HUM G, 9(2), 2001, pp. 91-96
Adult neuronal ceroid lipofuscinosis with palmitoyl-protein thioesterase deficiency: First adult-onset patients of a childhood disease
Authors: van Diggelen, OP Thobois, S Tilikete, C Zabot, MT Keulemans, JLM van Bunderen, PA Taschner, PEM Losekoot, M Voznyi, YV
Citation: Op. Van Diggelen et al., Adult neuronal ceroid lipofuscinosis with palmitoyl-protein thioesterase deficiency: First adult-onset patients of a childhood disease, ANN NEUROL, 50(2), 2001, pp. 269-272
First-trimester diagnosis of late-infantile neuronal ceroid lipofuscinosis(LINCL) by tripeptidyl peptidase I assay and CLN2 mutation analysis
Authors: Kleijer, WJ van Diggelen, OP Keulemans, JLM Losekoot, M Garritsen, VH Stroink, H Majoor-Krakauer, D Franken, PF Eurlings, MCM Taschner, PEM Los, FJ Galjaard, RJH
Citation: Wj. Kleijer et al., First-trimester diagnosis of late-infantile neuronal ceroid lipofuscinosis(LINCL) by tripeptidyl peptidase I assay and CLN2 mutation analysis, PRENAT DIAG, 21(2), 2001, pp. 99-101
A fluorimetric enzyme assay for the diagnosis of MPS II (Hunter disease)
Authors: Voznyi, YV Keulemans, JLM van Diggelen, OP
Citation: Yv. Voznyi et al., A fluorimetric enzyme assay for the diagnosis of MPS II (Hunter disease), J INH MET D, 24(6), 2001, pp. 675-680
A rapid fluorogenic palmitoyl-protein thioesterase assay: Pre- and postnatal diagnosis of INCL
Authors: van Diggelen, OP Keulemans, JLM Winchester, B Hofman, IL Vanhanen, SL Santavuori, P Voznyi, YV
Citation: Op. Van Diggelen et al., A rapid fluorogenic palmitoyl-protein thioesterase assay: Pre- and postnatal diagnosis of INCL, MOL GEN MET, 66(4), 1999, pp. 240-244
An Asn -> Lys substitution in saposin B involving a conserved amino acidicresidue and leading to the loss of the single N-glycosylation site in a patient with metachromatic leukodystrophy and normal arylsulphatase A activity
Authors: Regis, S Filocamo, M Corsolini, F Caroli, F Keulemans, JLM van Diggelen, OP Gatti, R
Citation: S. Regis et al., An Asn -> Lys substitution in saposin B involving a conserved amino acidicresidue and leading to the loss of the single N-glycosylation site in a patient with metachromatic leukodystrophy and normal arylsulphatase A activity, EUR J HUM G, 7(2), 1999, pp. 125-130
First-trimester diagnosis of infantile neuronal ceroid lipofuscinosis (INCL) using PPT enzyme assay and CLN1 mutation analysis
Authors: de Vries, BBA Kleijer, WJ Keulemans, JLM Voznyi, YV Franken, PF Eurlings, MCM Galjaard, RJ Losekoot, M Catsman-Berrevoets, CE Breuning, MH Taschner, PEM van Diggelen, OP
Citation: Bba. De Vries et al., First-trimester diagnosis of infantile neuronal ceroid lipofuscinosis (INCL) using PPT enzyme assay and CLN1 mutation analysis, PRENAT DIAG, 19(6), 1999, pp. 559-562
A new simple enzyme assay for pre- and postnatal diagnosis of infantile neuronal ceroid lipofuscinosis (INCL) and its variants
Authors: Voznyi, YV Keulemans, JLM Mancini, GMS Catsman-Berrevoets, CE Young, E Winchester, B Kleijer, WJ van Diggelen, OP
Citation: Yv. Voznyi et al., A new simple enzyme assay for pre- and postnatal diagnosis of infantile neuronal ceroid lipofuscinosis (INCL) and its variants, J MED GENET, 36(6), 1999, pp. 471-474
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