Broad spectrum of Pompe disease in patients with the same c.-32-13T->G haplotype
Kroos, M A, Pomponio, R J, Hagemans, M L, Keulemans, J L M, Phipps, M, DeRiso, M, Palmer, R E, Ausems, M G E M, Van der Beek, N A M E, Van Diggelen, O P, Halley, D J J, Van der Ploeg, A T, Reuser, A J J
Published in Neurology (09.01.2007)
Published in Neurology (09.01.2007)
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A fluorimetric enzyme assay for the diagnosis of MPS II (Hunter disease)
Voznyi, Ya. V., Keulemans, J. L. M., Diggelen, O. P.
Published in Journal of inherited metabolic disease (01.11.2001)
Published in Journal of inherited metabolic disease (01.11.2001)
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A new fluorimetric enzyme assay for the diagnosis of Niemann–Pick A/B, with specificity of natural sphingomyelinase substrate
Diggelen, O. P., Voznyi, Ya. V., Keulemans, J. L. M., Schoonderwoerd, K., Ledvinova, J., Mengel, E., Zschiesche, M., Santer, R., Harzer, K.
Published in Journal of inherited metabolic disease (01.01.2005)
Published in Journal of inherited metabolic disease (01.01.2005)
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Asymptomatic and late-onset ornithine transcarbamylase (OTC) deficiency in males of a five-generation family, caused by an A208T mutation
van Diggelen, O P, Zaremba, J, He, W, Keulemans, J L, Boer, A M, Reuser, A J, Ausems, M G, Smeitink, J A, Kowalczyk, J, Pronicka, E, Rokicki, D, Tarnowska-Dziduszko, E, Kneppers, A L, Bakker, E
Published in Clinical genetics (01.11.1996)
Published in Clinical genetics (01.11.1996)
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A new simple enzyme assay for pre- and postnatal diagnosis of infantile neuronal ceroid lipofuscinosis (INCL) and its variants
Voznyi, Y V, Keulemans, J L M, Mancini, G M S, Catsman-Berrevoets, C E, Young, E, Winchester, B, Kleijer, W J, van Diggelen, O P
Published in Journal of medical genetics (01.06.1999)
Published in Journal of medical genetics (01.06.1999)
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First-trimester diagnosis of late-infantile neuronal ceroid lipofuscinosis (LINCL) by tripeptidyl peptidase I assay and CLN2 mutation analysis
Kleijer, W. J., van Diggelen, O. P., Keulemans, J. L. M., Losekoot, M., Garritsen, V. H., Stroink, H., Majoor-Krakauer, D., Franken, P. F., Eurlings, M. C. M., Taschner, P. E. M., Los, F. J., Galjaard, R. J. H.
Published in Prenatal diagnosis (01.02.2001)
Published in Prenatal diagnosis (01.02.2001)
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Prevalent mutations in the GALC gene of patients with Krabbe disease of Dutch and other European origin
Kleijer, W. J., Keulemans, J. L. M., der Kraan, M., Geilen, G. G., der Helm, R. M., Rafi, M. A., Luzi, P., Wenger, D. A., Halley, D. J. J., Diggelen, O. P.
Published in Journal of inherited metabolic disease (01.08.1997)
Published in Journal of inherited metabolic disease (01.08.1997)
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Asymptomatic and late-onset ornithine transcarbamylase deficiency caused by a A208T mutation: clinical, biochemical and DNA analyses in a four-generation family
Ausems, M G, Bakker, E, Berger, R, Duran, M, van Diggelen, O P, Keulemans, J L, de Valk, H W, Kneppers, A L, Dorland, L, Eskes, P F, Beemer, F A, Poll-The, B T, Smeitink, J A
Published in American journal of medical genetics (20.01.1997)
Published in American journal of medical genetics (20.01.1997)
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PRENATAL DIAGNOSIS OF SANFILIPPO A SYNDROME: EXPERIENCE IN 35 PREGNANCIES AT RISK AND THE USE OF A NEW FLUOROGENIC SUBSTRATE FOR THE HEPARIN SULPHAMIDASE ASSAY
KLEIJER, W. J., KARPOVA, E. A., GEILEN, G. C., KEULEMANS, J. L. M., HUIJMANS, J. G. M., TSVETKOVA, I. V., VOZNYI, YA. V., VAN DIGGELEN, O. P.
Published in Prenatal diagnosis (01.09.1996)
Published in Prenatal diagnosis (01.09.1996)
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Human alpha-N-acetylgalactosaminidase (alpha-NAGA) deficiency: new mutations and the paradox between genotype and phenotype
Keulemans, J L, Reuser, A J, Kroos, M A, Willemsen, R, Hermans, M M, van den Ouweland, A M, de Jong, J G, Wevers, R A, Renier, W O, Schindler, D, Coll, M J, Chabas, A, Sakuraba, H, Suzuki, Y, van Diggelen, O P
Published in Journal of medical genetics (01.06.1996)
Published in Journal of medical genetics (01.06.1996)
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First-trimester diagnosis of infantile neuronal ceroid lipofuscinosis (INCL) using PPT enzyme assay and CLN1 mutation analysis
de Vries, B. B. A., Kleijer, W. J., Keulemans, J. L. M., Voznyi, Y. V., Franken, P. F., Eurlings, M. C. M., Galjaard, R. J., Losekoot, M., Catsman-Berrevoets, C. E., Breuning, M. H., Taschner, P. E. M., van Diggelen, O. P.
Published in Prenatal diagnosis (01.06.1999)
Published in Prenatal diagnosis (01.06.1999)
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Journal Article
First-trimester diagnosis of infantile neuronal ceroid lipofuscinosis (INCL) using PPT enzyme assay andCLN1 mutation analysis
de Vries, B. B. A., Kleijer, W. J., Keulemans, J. L. M., Voznyi, Y. V., Franken, P. F., Eurlings, M. C. M., Galjaard, R. J., Losekoot, M., Catsman-Berrevoets, C. E., Breuning, M. H., Taschner, P. E. M., van Diggelen, O. P.
Published in Prenatal diagnosis (01.06.1999)
Published in Prenatal diagnosis (01.06.1999)
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First-trimester diagnosis of infantile neuronal ceroid lipofuscinosis (INCL) using PPT enzyme assay and CLN1 mutation analysis
DE VRIES, B. B. A, KLEIJER, W. J, TASCHNER, P. E. M, VAN DIGGELEN, O. P, KEULEMANS, J. L. M, VOZNYI, Y. V, FRANKEN, P. F, EURLINGS, M. C. M, GALJAARD, R. J, LOSEKOOT, M, CATSMAN-BERREVOETS, C. E, BREUNING, M. H
Published in Prenatal diagnosis (1999)
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Published in Prenatal diagnosis (1999)
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