Search Results - "Janse, H. C."

A fluorimetric enzyme assay for the diagnosis of Morquio disease type A (MPS IV A) by van Diggelen, O P, Zhao, H, Kleijer, W J, Janse, H C, Poorthuis, B J, van Pelt, J, Kamerling, J P, Galjaard, H

“…4-Methylumbelliferyl-beta-D-galactopyranoside-6-sulphate was synthesized and used for the determination of galactose-6-sulphate sulphatase activity…”
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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

“…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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A fluorimetric enzyme assay for the diagnosis of Sanfilippo disease C (MPS III C) by Voznyi, Ya. V., Karpova, E. A., Dudukina, T. V., Tsvetkova, I. V., Boer, A. M., Janse, H. C., Diggelen, O. P.

“…Summary Both the α‐ and β‐anomers of 4‐methylumbelliferyl‐D‐glucosaminide were synthesized and shown to be substrates for the lysosomal acetyl‐CoA:…”
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Prenatal diagnosis of Niemann-Pick disease type C by de Winter, J M, Janse, H C, van Diggelen, O P, Los, F J, Beemer, F A, Kleijer, W J

“…Niemann-Pick disease type C (NPC) was demonstrated in two successive pregnancies by strongly reduced activity of sphingomyelinase in amniotic fluid cells. By…”
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Salla disease variant in a Dutch patient : potential value of polymorphonuclear leucocytes for heterozygote detection by MANCINI, G. M. S, HU, P, VERHEIJEN, F. W, VAN DIGGELEN, O. P, JANSE, H. C, KLEIJER, W. J, BEEMER, F. A, JENNEKENS, F. G. I

“…A Dutch child with psychomotor retardation, impaired speech, ataxia, sialic acid storage and vacuolized skin fibroblasts and lymphocytes was diagnosed as…”
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Biosynthesis of human alpha-N-acetylgalactosaminidase: defective phosphorylation and maturation in infantile alpha-NAGA deficiency by Hu, P, Reuser, A J, Janse, H C, Kleijer, W J, Schindler, D, Sakuraba, H, Tsuji, A, Suzuki, Y, van Diggelen, O P

“…The biosynthesis of human alpha-N-acetylgalactosaminidase (alpha-NAGA) was studied in normal fibroblasts and in cells from patients with infantile alpha-NAGA…”
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Late-onset globoid cell leucodystrophy (Krabbe's disease). Clinical and genetic delineation of two forms and their relation to the early-infantile form by Loonen, M C, Van Diggelen, O P, Janse, H C, Kleijer, W J, Arts, W F

“…A girl is described with a late-onset form of globoid cell leucodystrophy (GLD, Krabbe's disease). Data of this patient and seventeen reported patients with…”
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First trimester diagnosis of Wolman's disease by van Diggelen, O P, von Koskull, H, Ammälä, P, Vredeveldt, G T, Janse, H C, Kleijer, W J

“…Wolman's disease was diagnosed in the first trimester of pregnancy by the direct demonstration of acid lipase deficiency in chorionic villi. The diagnosis was…”
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Amniotic fluid disaccharidases in the prenatal detection of cystic fibrosis by Kleijer, W J, Janse, H C, van Diggelen, O P, Niermeijer, M F

“…Intestinal disaccharidases in amniotic fluid were studied in 41 pregnancies with a recurrence risk for cystic fibrosis (CF). In 11 out of 13 pregnancies with…”
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Concanavalin A variants of alpha-fetoprotein in first trimester fetuses with trisomy 21 and with normal karyotypes by Los, F J, Janse, H C, Brandenburg, H, de Vrij, R W, de Bruijn, H W

“…Total alpha-fetoprotein (AFP) concentrations and proportions of AFP non-reactive with the lectin concanavalin A (Con A) were studied in extracellular fluid of…”
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First-trimester diagnosis of mucopolysaccharidosis IIIA (Sanfilippo A disease) by Kleijer, W J, Janse, H C, Vosters, R P, Niermeijer, M F, van de Kamp, J J

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Tumor growth delay and cell survival after treatment with irradiation and vinblastine by Kal, H B, Barendsen, G W, Janse, H C

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Comparison of growth characteristics of experimental tumours and derived cell cultures by Barendsen, G W, Janse, H C, Deys, B F, Hollander, C F

“…Cells from seven different rat tumours and a mouse sarcoma have been transplanted in syngeneic animals and were cultured in vitro. Tumours produced by…”
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Debranching enzyme in fibroblasts, amniotic fluid cells and chorionic villi: pre- and postnatal diagnosis of glycogenosis type III by van Diggelen, O P, Janse, H C, Smit, G P

“…Glycogenosis type III is characterized by a deficiency of debranching enzyme in most tissues, and it can be detected by the inability to liberate glucose from…”
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Two genetically different MU-NANA neuraminidases in human leucocytes by Verheijen, F W, Janse, H C, van Diggelen, O P, Bakker, H D, Loonen, M C, Durand, P, Galjaard, H

“…Human leucocytes contain two different MU-NANA neuraminidases, which can be distinguished by Concanavalin A binding. The Con A binding form is predominant in…”
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Disaccharidases in amniotic fluid as possible prenatal marker for cystic fibrosis by van Diggelen, O P, Janse, H C, Kleijer, W J

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First trimester diagnosis of Hunter syndrome on chorionic villi by Kleijer, W J, van Diggelen, O P, Janse, H C, Galjaard, H, Dumez, Y, Boué, J

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Proceedings: Effectiveness of combined treatments of various types of transplantable rat tumour with ionizing radiation and drugs by Barendsen, G W, Hermens, A F, Janse, H C

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Differences in effectiveness of combined treatments with ionizing radiation and vinblastine, evaluated for experimental sarcomas and squamous cell carcinomas in rats by Barendsen, G W, Janse, H C

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First-trimester diagnosis of galactosaemia by Kleijer, W J, Janse, H C, van Diggelen, O P, Macek, M, Hajek, Z, Gillett, M G, Holton, J B

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