SPORADIC COL4A1 MUTATIONS WITH EXTENSIVE PRENATAL PORENCEPHALY RESEMBLING HYDRANENCEPHALY von MEUWISSEN, M. E. C, DE VRIES, L. S, WESSELS, M. W, MANCINI, G. M. S, VERBEEK, H. A, LEQUIN, M. H, GOVAERT, P. P, SCHOT, R, COWAN, F. M, HENNEKAM, R, RIZZU, P, VERHEIJEN, F. W

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Elevated CSF N-acetylaspartylglutamate in patients with free sialic acid storage diseases von MOCHEL, F, ENGELKE, U. F. H, SEGUIN, F, WEVERS, R. A, SCHIFFMANN, R, BARRITAULT, J, YANG, B, MCNEILL, N. H, THOMPSON, J. N, VANDERVER, A, WOLF, N. I, WILLEMSEN, M. A, VERHEIJEN, F. W

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Cerebellar ataxia with elevated cerebrospinal free sialic acid (CAFSA) von Mochel, F., Sedel, F., Vanderver, A., Engelke, U. F. H., Barritault, J., Yang, B. Z., Kulkarni, B., Adams, D. R., Clot, F., Ding, J. H., Kaneski, C. R., Verheijen, F. W., Smits, B. W., Seguin, F., Brice, A., Vanier, M. T., Huizing, M., Schiffmann, R., Durr, A., Wevers, R. A.

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A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases von Verheijen, Frans W, Verbeek, Elly, Aula, Nina, Beerens, Cecile E.M.T, Havelaar, Adrie C, Joosse, Marijke, Peltonen, Leena, Aula, Pertti, Galjaard, Hans, van der Spek, Peter J, Mancini, Grazia M.S

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Brain abnormalities in a case of malonyl-CoA decarboxylase deficiency von de Wit, M.C.Y., de Coo, I.F.M., Verbeek, E., Schot, R., Schoonderwoerd, G.C., Duran, M., de Klerk, J.B.C., Huijmans, J.G.M., Lequin, M.H., Verheijen, F.W., Mancini, G.M.S.

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Homozygosity for the p.K136E mutation in the SLC17A5 gene as cause of an Italian severe Salla disease von BIANCHERI, R, ROSSI, A, VERBEEK, H. A, SCHOT, R, CORSOLINI, F, ASSERETO, S, MANCINI, G. M. S, VERHEIJEN, F. W, MINETTI, C, FILOCAMO, M

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Lysosomal transport disorders von Mancini, G. M. S., Havelaar, A. C., Verheijen, F. W.

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Hemoglobin precipitation greatly improves 4-methylumbelliferone-based diagnostic assays for lysosomal storage diseases in dried blood spots von Oemardien, L.F., Boer, A.M., Ruijter, G.J.G., van der Ploeg, A.T., de Klerk, J.B.C., Reuser, A.J.J., Verheijen, F.W.

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An Italian severe Salla disease variant associated with a SLC17A5 mutation earlier described in infantile sialic acid storage disease von Biancheri, R, Verbeek, E, Rossi, A, Gaggero, R, Roccatagliata, L, Gatti, R, Van Diggelen, Op, Verheijen, FW, Mancini, GMS

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Characterization of a proton-driven carrier for sialic acid in the lysosomal membrane. Evidence for a group-specific transport system for acidic monosaccharides von MANCINI, G. M. S, DE JONGE, H. R, GALJAARD, H, VERHEIJEN, F. W

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Expression of cDNA encoding the human “protective protein≓ associated with lysosomal β-galactosidase and neuraminidase: Homology to yeast proteases von Galjart, Niels J., Gillemans, Nynke, Harris, Alan, van der Horst, Gijsbertus T.J., Verheijen, Frans W., Galjaard, Hans, d'Azzo, Alessandra

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Fibroblast silver loading for the diagnosis of Menkes disease von Verheijen, F W, Beerens, C E, Havelaar, A C, Kleijer, W J, Mancini, G M

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The relation between human lysosomal beta-galactosidase and its protective protein von Hoogeveen, A T, Verheijen, F W, Galjaard, H

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Identification and in Vitro Reconstitution of Lysosomal Neuraminidase from Human Placenta von van der Horst, G T J, Galjart, N J, d'Azzo, A, Galjaard, H, Verheijen, F W

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Glucose transport in lysosomal membrane vesicles. Kinetic demonstration of a carrier for neutral hexoses von MANCINI, G. M. S, BEERENS, C. E. M. T, VERHEIJEN, F. W

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Functional Reconstitution of the Lysosomal Sialic Acid Carrier Into Proteoliposomes von Grazia M. S. Mancini, Cecile E. M. T. Beerens, Galjaard, Hans, Verheijen, Frans W.

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Sialic acid storage diseases : a multiple lysosomal transport defect for acidic monosaccharides von MANCINI, G. M. S, BEERENS, C. E. M. T, AULA, P. P, VERHEIJEN, F. W

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Photoaffinity labeling of a bacterial sialidase with an aryl azide derivative of sialic acid von VAN DER HORST, G. T. J, MANCINI, G. M. S, BROSSMERS, R, ROSE, U, VERHEIJEN, F. W

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Enzymatic and molecular strategies to diagnose Pompe disease von Reuser, AJJ, Verheijen, FW, Kroos, MA, Okumiya, T, Van Diggelen, OP, Van der Ploeg, AT, Halley, DJJ

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Galactosialidosis: molecular heterogeneity among distinct clinical phenotypes von PALMERI, S, HOOGEVEEN, A. T, VERHEIJEN, F. W, GALJAARD, H

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