Diagnostic dilemmas in Fabry disease: a case series study on GLA mutations of unknown clinical significance von Smid, B.E., Hollak, C.E.M., Poorthuis, B.J.H.M., van den Bergh Weerman, M.A., Florquin, S., Kok, W.E.M., Lekanne Deprez, R.H., Timmermans, J., Linthorst, G.E.

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Acid sphingomyelinase (Asm) deficiency patients in The Netherlands and Belgium: Disease spectrum and natural course in attenuated patients von Hollak, C.E.M., de Sonnaville, E.S.V., Cassiman, D., Linthorst, G.E., Groener, J.E., Morava, E., Wevers, R.A., Mannens, M., Aerts, J.M.F.G., Meersseman, W., Akkerman, E., Niezen-Koning, K.E., Mulder, M.F., Visser, G., Wijburg, F.A., Lefeber, D., Poorthuis, B.J.H.M.

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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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Gene expression profile and histopathology of experimental bronchopulmonary dysplasia induced by prolonged oxidative stress von Wagenaar, Gerry T.M, ter Horst, Simone A.J, van Gastelen, Margôt A, Leijser, Lara M, Mauad, Thais, van der Velden, Pieter A, de Heer, Emile, Hiemstra, Pieter S, Poorthuis, Ben J.H.M, Walther, Frans J

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Late-onset MNGIE due to partial loss of thymidine phosphorylase activity von Martí, Ramon, Verschuuren, Jan J. G. M., Buchman, Alan, Hirano, Ikuo, Tadesse, Saba, van Kuilenburg, André B. P., van Gennip, Albert H., Poorthuis, Ben J. H. M., Hirano, Michio

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Clear Correlation of Genotype with Disease Phenotype in Very–Long-Chain Acyl-CoA Dehydrogenase Deficiency von Andresen, Brage Storstein, Olpin, Simon, Poorthuis, Ben J.H.M., Scholte, Hans R., Vianey-Saban, Christine, Wanders, Ronald, Ijlst, Lodewijk, Morris, Andrew, Pourfarzam, Morteza, Bartlett, Kim, Baumgartner, E. Regula, deKlerk, Johannis B.C., Schroeder, Lisbeth Dahl, Corydon, Thomas J., Lund, Hans, Winter, Vibeke, Bross, Peter, Bolund, Lars, Gregersen, Niels

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Early cerebral manifestations in a young female with Fabry disease with skewed X-inactivation von Bouwman, MG, Rombach, SM, Linthorst, GE, Poorthuis, BJHM, Lekanne Deprez, RH, Aerts, JMFG, Wijburg, FA

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Pentoxifylline reduces fibrin deposition and prolongs survival in neonatal hyperoxic lung injury von ter Horst, Simone A. J, Wagenaar, Gerry T. M, de Boer, Eveline, van Gastelen, Margot A, Meijers, Joost C. M, Biemond, Bart J, Poorthuis, Ben J. H. M, Walther, Frans J

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Sanfilippo type B syndrome (mucopolysaccharidosis III B): allelic heterogeneity corresponds to the wide spectrum of clinical phenotypes von Weber, B, Guo, X H, Kleijer, W J, van de Kamp, J J, Poorthuis, B J, Hopwood, J J

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Phospholipase A2 is present in meconium and inhibits the activity of pulmonary surfactant: an in vitro study von Schrama, AJJ, de Beaufort, AJ, Sukul, YRM, Jansen, SM, Poorthuis, BJHM, Berger, HM

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Persistent 5‐oxoprolinuria with normal glutathione synthase and 5‐oxoprolinase activities von Ruijter, G. J. G., Mourad‐Baars, P. E. C., Ristoff, E., Onkenhout, W., Poorthuis, B. J. H. M.

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Very long chain acyl-coenzyme A dehydrogenase deficiency with adult onset von Smelt, A. H. M., Poorthuis, B. J. H. M., Onkenhout, W., Scholte, H. R., Andresen, B. S., van Duinen, S. G., Gregersen, N., Wintzen, A. R.

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External quality assurance programme for enzymatic analysis of lysosomal storage diseases: A pilot study von Ruijter, G. J. G., Boer, M., Weykamp, C. W., De Vries, R., Berg, I., Janssens‐Puister, J., Niezen‐Koning, K., Wevers, R. A., Poorthuis, B. J. H. M., Diggelen, O. P.

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Identification of 31 novel mutations in the N-acetylgalactosamine-6-sulfatase gene reveals excessive allelic heterogeneity among patients with Morquio A syndrome von Bunge, Susanna, Kleijer, Wim J., Tylki-Szymanska, Anna, Steglich, Cordula, Beck, Michael, Tomatsu, Shunji, Fukuda, Seiji, Poorthuis, Ben J. H. M., Czartoryska, Barbara, Orii, Tadao, Gal, Andreas

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Biosynthesis of Phosphatidylcholine from a Phosphocholine Precursor Pool Derived from the Late Endosomal/Lysosomal Degradation of Sphingomyelin von Jansen, Suzanne M., Groener, Johanna E.M., Bax, Wim, Suter, Anke, Saftig, Paul, Somerharju, Pentti, Poorthuis, Ben J.H.M.

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Depletion of mitochondrial DNA in the liver of a patient with lactic acidemia and hypoketotic hypoglycemia von Maaswinkel-Mooij, P.D., Van den Bogert, C., Scholte, H.R., Onkenhout, W., Brederoo, P., Poorthuis, B.J.H.M.

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Delayed lysosomal metabolism of lipids in mucolipidosis type IV fibroblasts after LDL‐receptor‐mediated endocytosis von Jansen, S. M., Groener, J. E. M., Bax, W., Poorthuis, B. J. H. M.

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Donor-Derived Cells in the Central Nervous System of Twitcher Mice after Bone Marrow Transplantation von Hoogerbrugge, Peter M., Suzuki, Kinuko, Suzuki, Kunihiko, Ben J. H. M. Poorthuis, Kobayashi, Takuro, Wagemaker, Gerard, Van Bekkum, Dirk W.

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The total free radical trapping ability of cord blood plasma in preterm and term babies von LINDEMAN, J. H. N, VAN ZOEREN-GROBBEN, D, SCHRIJVER, J, SPEEK, A. J, POORTHUIS, B. J. H. M, BERGER, H. M

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Prenatal diagnosis of lysosomal storage diseases using fetal blood von Groener, Johanna E. M., de Graaf, Frank L., Poorthuis, Ben J. H. M., Kanhai, Humphrey H. H.

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