A fluorimetric enzyme assay for the diagnosis of MPS II (Hunter disease)VOZNYI, Ya. V; KEULEMANS, J. L. M; VAN DIGGELEN, O. P et al.Journal of inherited metabolic disease. 2001, Vol 24, Num 6, pp 675-680, issn 0141-8955Article

Prenatal diagnosis of Sanfilippo a syndrome : Experience in 35 pregnancies at risk and the use of a new fluorogenic substrate for the heparin sulphamidase assayKLEIJER, W. J; KARPOVA, E. A; GEILEN, G. C et al.Prenatal diagnosis. 1996, Vol 16, Num 9, pp 829-835, issn 0197-3851Article

Asymptomatic and late-onset ornithine transcarbamylase (OTC) deficiency in males of a five-generation family, caused by an A208T mutationVAN DIGGELEN, O. P; ZAREMBA, J; ROKICKI, D et al.Clinical genetics. 1996, Vol 50, Num 5, pp 310-316, issn 0009-9163Article

First-trimester diagnosis of late-infantile neuronal ceroid lipofuscinosis (LINCL) by tripeptidyl peptidase I assay and CLN2 mutation analysisKLEIJER, W. J; VAN DIGGELEN, O. P; LOS, F. J et al.Prenatal diagnosis. 2001, Vol 21, Num 2, pp 99-101, issn 0197-3851Article

First-trimester diagnosis of infantile neuronal ceroid lipofuscinosis (INCL) using PPT enzyme assay and CLN1 mutation analysisDE VRIES, B. B. A; KLEIJER, W. J; TASCHNER, P. E. M et al.Prenatal diagnosis. 1999, Vol 19, Num 6, pp 559-562, issn 0197-3851Article

Prevalent mutations in the GALC gene of patients with Krabbe disease of Dutch and other European originKLEIJER, W. J; KEULEMANS, J. L. M; VAN DER KRAAN, M et al.Journal of inherited metabolic disease. 1997, Vol 20, Num 4, pp 587-594, issn 0141-8955Article

Applications of a new fluorimetric enzyme assay for the diagnosis of aspartylglucosaminuriaVOZNYI, YA. V; KEULEMANS, J. L. M; KLEIJER, W. J et al.Journal of inherited metabolic disease. 1993, Vol 16, Num 6, pp 929-934, issn 0141-8955Article

Prenatal diagnosis of the Hunter syndrome and the introduction of a new fluorimetric enzyme assayKEULEMANS, J. L. M; SINIGERSKA, I; GARRITSEN, V. H et al.Prenatal diagnosis. 2002, Vol 22, Num 11, pp 1016-1021, issn 0197-3851, 6 p.Article

A new simple enzyme assay for pre- and postnatal diagnosis of infantile neuronal ceroid lipofuscinosis (INCL) and its variantsVOZNYI, Y. V; KEULEMANS, J. L. M; MANCINI, G. M. S et al.Journal of medical genetics. 1999, Vol 36, Num 6, pp 471-474, issn 0022-2593Article

A fluorimetric enzyme assay for the diagnosis of Sanfilippo disease type A (MPS IIIA)KARPOVA, E. A; VOZNYI, YA. V; KEULEMANS, J. L. M et al.Journal of inherited metabolic disease. 1996, Vol 19, Num 3, pp 278-285, issn 0141-8955Article

Broad spectrum of Pompe disease in patients with the same c.-32-13T→G haplotypeKROOS, M. A; POMPONIO, R. J; HALLEY, D. J. J et al.Neurology. 2007, Vol 68, Num 2, pp 110-115, issn 0028-3878, 6 p.Article

A new fluorimetric enzyme assay for the diagnosis of Niemann-Pick A/B, with specificity of natural sphingomyelinase substrateVAN DIGGELEN, O. P; VOZNYI, Ya. V; KEULEMANS, J. L. M et al.Journal of inherited metabolic disease. 2005, Vol 28, Num 5, pp 733-741, issn 0141-8955, 9 p.Article

Asymptomatic and late-onset ornithine transcarbamylase deficiency caused by a A208T mutation : Clinical, biochemical and DNA analyses in a four-generation familyAUSEMS, M. G. E. M; BAKKER, E; BEEMER, F. A et al.American journal of medical genetics. 1997, Vol 68, Num 2, pp 236-239, issn 0148-7299Article

Human α-N-acetylgalactosaminidase (α-NAGA) deficiency : new mutations and the paradox between genotype and phenotypeKEULEMANS, J. L. M; REUSER, A. J. J; COLL, M. J et al.Journal of medical genetics. 1996, Vol 33, Num 6, pp 458-464, issn 0022-2593Article