Cathepsin A deficiency in galactosialidosis : Studies of patients and carriers in 16 families
KLEIJER, W. J, GEILEN, G. C, JANSE, H. C, VAN DIGGELEN, O. P, ZHOU, X. Y, GALJART, N. J, GALJAARD, H, D'AZZO, A
Published in Pediatric research (01.06.1996)
Published in Pediatric research (01.06.1996)
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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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Prenatal diagnosis of Sanfilippo disease type C using a simple fluorometric enzyme assay
He, W, Voznyi YaV, Huijmans, J G, Geilen, G C, Karpova, E A, Dudukina, T V, Zaremba, J, Van Diggelen, O P, Kleijer, W J
Published in Prenatal diagnosis (01.01.1994)
Published in Prenatal diagnosis (01.01.1994)
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Prenatal analyses in a pregnancy at risk for beta-mannosidosis
Kleijer, W J, Geilen, G C, Van Diggelen, O P, Wevers, R A, Los, F J
Published in Prenatal diagnosis (01.10.1992)
Published in Prenatal diagnosis (01.10.1992)
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First-trimester diagnosis of Morquio disease type A
Kleijer, W. J., Geilen, G. C., Garritsen, V., Huijmans, J. G. M., Los, F. J., Voznyi, Y. V., van Diggelen, O. P.
Published in Prenatal diagnosis (01.03.2000)
Published in Prenatal diagnosis (01.03.2000)
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Ceramide signalling : regulatory role in cell proliferation, differentiation and apoptosis in human epidermis
GEILEN, C. C, WIEDER, T, ORFANOS, C. E
Published in Archives of Dermatological Research (01.09.1997)
Published in Archives of Dermatological Research (01.09.1997)
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First-trimester diagnosis of Morquio disease type a
KLEIJER, W. J, GEILEN, G. C, GARRITSEN, V, HUIJMANS, J. G. M, LOS, F. J, VOZNYI, Y. V, VAN DIGGELEN, O. P
Published in Prenatal diagnosis (2000)
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Published in Prenatal diagnosis (2000)
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