The frequency of lysosomal storage diseases in The Netherlands von Poorthuis, B.J.H.M., Wevers, R.A., Kleijer, W.J., Groener, J.E.M., de Jong, J.G.N., van Weely, S., Niezen-Koning, K.E., van Diggelen, O.P.

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Genomic organization of the human phosphomannose isomerase (MPI) gene and mutation analysis in patients with congenital disorders of glycosylation type Ib (CDG-Ib) von Schollen, E., Dorland, L., de Koning, T.J., Van Diggelen, O.P., Huijmans, J.G.M., Marquardt, T., Babovic-Vuksanovic, D., Patterson, M., Imtiaz, F., Winchester, B., Adamowicz, M., Pronicka, E., Freeze, H., Matthijs, G.

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Clinical and genetic spectrum of Sanfilippo type C (MPS IIIC) disease in The Netherlands von Ruijter, G.J.G., Valstar, M.J., van de Kamp, J.M., van der Helm, R.M., Durand, S., van Diggelen, O.P., Wevers, R.A., Poorthuis, B.J., Pshezhetsky, A.V., Wijburg, F.A.

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Juvenile Hyaline Fibromatosis: Clinical Heterogeneity in Three Patients von Mancini, G.M.S., Stojanov, L., Willemsen, R., Kleijer, W.J., Huijmans, J.G.M., van Diggelen, O.P., de Klerk, J.B.C., Vuzevski, V.D., Oranje, A.P.

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Methods for a prompt and reliable laboratory diagnosis of Pompe disease: Report from an international consensus meeting von Winchester, B., Bali, D., Bodamer, O.A., Caillaud, C., Christensen, E., Cooper, A., Cupler, E., Deschauer, M., Fumić, K., Jackson, M., Kishnani, P., Lacerda, L., Ledvinová, J., Lugowska, A., Lukacs, Z., Maire, I., Mandel, H., Mengel, E., Müller-Felber, W., Piraud, M., Reuser, A., Rupar, T., Sinigerska, I., Szlago, M., Verheijen, F., van Diggelen, O.P., Wuyts, B., Zakharova, E., Keutzer, J.

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Decreased oxidative phosphorylation and PGAM deficiency in horses suffering from atypical myopathy associated with acquired MADD von Westermann, C.M., Dorland, L., van Diggelen, O.P., Schoonderwoerd, K., Bierau, J., Waterham, H.R., van der Kolk, J.H.

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Glycogen Storage Disease Type II: Birth Prevalence Agrees with Predicted Genotype Frequency von Ausems, M.G.E.M., Berg, K. ten, Kroos, M.A., van Diggelen, O.P., Wevers, R.A., Poorthuis, B.J.H.M., Niezen-Koning, K.E., van der Ploeg, A.T., Beemer, F.A., Reuser, A.J.J., Sandkuijl, L.A., Wokke, J.H.J.

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A Novel Disorder of N-Glycosylation Due to Phosphomannose Isomerase Deficiency von de Koning, T.J., Dorland, L., van Diggelen, O.P., Boonman, A.M.C., de Jong, G.J., van Noort, W.L., De Schryver, Jear, Duran, M., van den Berg, I.E.T., Gerwig, G.J., Berger, R., Poll-The, B.T.

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A diagnostic protocol for adult-onset glycogen storage disease type II von AUSEMS, M. G. E. M, LOCHMAN, P, VAN DIGGELEN, O. P, PLOOS VAN AMSTEL, H. K, REUSER, A. J. J, WOKKE, J. H. J

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Reply von Auwerda, J.J.A., Scheij, S., Leebeek, F.W.G., Wilson, J.H.P., Van Diggelen, O.P., Lam, K.H., Sonneveld, P.

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Reply von Auwerda, J.J.A., Scheij, S., Leebeek, F.W.G., Wilson, J.H.P., Van Diggelen, O.P., Lam, K.H., Sonneveld, P.

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Reply von Auwerda, J.J.A., Scheij, S., Leebeek, F.W.G., Wilson, J.H.P., Van Diggelen, O.P., Lam, K.H., Sonneveld, P.

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A Rapid Fluorogenic Palmitoyl-Protein Thioesterase Assay: Pre- and Postnatal Diagnosis of INCL von van Diggelen, O.P., Keulemans, J.L.M., Winchester, B., Hofman, I.L., Vanhanen, S.L., Santavuori, P., Voznyi, Y.V.

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Muscular glycogen storage diseases without increased glycogen content on histopathological examination von Hoeksma, M., den Dunnen, W.F.A., Niezen-Koning, K.E., van Diggelen, O.P., van Spronsen, F.J.

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Partial hypoxanthine–guanine phosphoribosyl transferase deficiency without elevated urinary hypoxanthine excretion von van Dael, C.M.L., Pierik, L.J.W.M., Reijngoud, D.J., Niezen-Koning, K.E., van Diggelen, O.P., van Spronsen, F.J.

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Juvenile and adult-onset acid maltase deficiency in France: genotype-phenotype correlation von Ausems, M G, Wokke, J H, Reuser, A J, van Diggelen, O P

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A novel missense mutation in the glycogen branching enzyme gene in a child with myopathy and hepatopathy von Bruno, C, DiRocco, M, Doria Lamba, L, Bado, M, Marino, C, Tsujino, S, Shanske, S, Stella, G, Minetti, C, van Diggelen, O.P, DiMauro, S

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Pre- and postnatal enzyme analysis for infantile,late infantile and adult neuronal ceroid lipofuscinosis ( CLN 1 and CLN2) von Van Diggelen, O.P., Keulemans, J.L.M., Kleijer, W.J., Thobois, S., Tilikete, C., Voznyi, Y.V.

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

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The multiple cases of Fabry disease in a Russian family caused by an E341K amino acid substitution in the α-galactosidase A von Beyer, E.M, Karpova, E.A, Udalova, O.V, Ploos van Amstel, J.K, van Diggelen, O.P, Tsvetkova, I.V

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