Search Results - "Geilen, G. C."

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  1. 1
    Cathepsin A deficiency in galactosialidosis : Studies of patients and carriers in 16 families

    Cathepsin A deficiency in galactosialidosis : Studies of patients and carriers in 16 families by 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)
    “…Deficiency of lysosomal protective protein/cathepsin A in humans is the primary cause of galactosialidosis, a lysosomal storage disease characterized by…”
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  2. 2
    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

    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 by 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)
    “…We have investigated the use of a 4‐methylumbelliferone (MU)‐derived artificial substrate, MU‐α‐d‐N‐sulphoglucosaminide, for the sulphamidase assay in…”
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  3. 3
    Prenatal diagnosis of Sanfilippo disease type C using a simple fluorometric enzyme assay

    Prenatal diagnosis of Sanfilippo disease type C using a simple fluorometric enzyme assay by 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)
    “…A new fluorogenic substrate, 4-methylumbelliferyl beta-D-glucosaminide, was used for the assay of acetyl CoA:glucosaminide N-acetyltransferase in chorionic…”
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  4. 4
    Prenatal analyses in a pregnancy at risk for beta-mannosidosis

    Prenatal analyses in a pregnancy at risk for beta-mannosidosis by Kleijer, W J, Geilen, G C, Van Diggelen, O P, Wevers, R A, Los, F J

    Published in Prenatal diagnosis (01-10-1992)
    “…Prenatal analyses were performed in the pregnancy of the mother of a patient with beta-mannosidase deficiency. Partial deficiency of beta-mannosidase activity…”
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  5. 5
    First-trimester diagnosis of Morquio disease type A

    First-trimester diagnosis of Morquio disease type A by 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)
    “…Since the introduction in 1990 of a novel fluorogenic substrate for galactose‐6‐sulphate sulphatase we have used this substrate for prospective prenatal…”
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  6. 6
    Ceramide signalling : regulatory role in cell proliferation, differentiation and apoptosis in human epidermis

    Ceramide signalling : regulatory role in cell proliferation, differentiation and apoptosis in human epidermis by GEILEN, C. C, WIEDER, T, ORFANOS, C. E

    Published in Archives of Dermatological Research (01-09-1997)
    “…The stratum corneum of vertebrates is a major structural compartment that provides mechanical protection and prevents skin desiccation. The water barrier…”
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  7. 7
    First-trimester diagnosis of Morquio disease type a

    First-trimester diagnosis of Morquio disease type a by 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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