Screening for Fabry disease in high-risk populations: a systematic review von Linthorst, G E, Bouwman, M G, Wijburg, F A, Aerts, J M F G, Poorthuis, B J H M, Hollak, C E M

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Early marrow transplantation in a pre-symptomatic neonate with late infantile metachromatic leukodystrophy does not halt disease progression von Bredius, R G M, Laan, L A E M, Lankester, A C, Poorthuis, B J H M, van Tol, M J D, Egeler, R M, Arts, W F M

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A systematic review on screening for Fabry disease: prevalence of individuals with genetic variants of unknown significance von van der Tol, L, Smid, B E, Poorthuis, B J H M, Biegstraaten, M, Deprez, R H Lekanne, Linthorst, G E, Hollak, C E M

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Non-neuronopathic Gaucher disease due to saposin C deficiency von Tylki-Szymańska, A, Czartoryska, B, Vanier, M-T, Poorthuis, BJMH, Groener, JAE, Ługowska, A, Millat, G, Vaccaro, AM, Jurkiewicz, E

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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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Failure to detect Fabry patients in a cohort of prematurely atherosclerotic males von Vedder, A. C, Gerdes, V. E. A, Poorthuis, B. J. H. M, Helmond, M, Trip, M. D, Aerts, J. M. F. G, Hollak, C. E. M

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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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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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Plasma glucosylceramide and ceramide in type 1 Gaucher disease patients: Correlations with disease severity and response to therapeutic intervention von Groener, J.E.M., Poorthuis, B.J.H.M., Kuiper, S., Hollak, C.E.M., Aerts, J.M.F.G.

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Congenital Disorder of Glycosylation type Ia presenting with hydrops fetalis von van de Kamp, Jiddeke Matuja, Lefeber, Dirk J, Ruijter, George JG, Steggerda, Sylke J, den Hollander, Nicolette S, Willems, Stefan M, Matthijs, Gert, Poorthuis, Ben JHM, Wevers, Ron A

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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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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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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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Secretory phospholipase A in newborn infants with sepsis von Schrama, A J J, de Beaufort, A J, Poorthuis, B J H M, Berger, H M, Walther, F J

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Secretory phospholipase A2 in newborn infants with sepsis von Schrama, A J J, de Beaufort, A J, Poorthuis, B J H M, Berger, H M, Walther, F J

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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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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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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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Considering Fabry, but Diagnosing MPS I: Difficulties in the Diagnostic Process von Langereis, E. J., van den Berg, I. E. T., Halley, D. J. J., Poorthuis, B. J. H. M., Vaz, F. M., Wokke, J. H. J., Linthorst, G. E.

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Intermediates of unsaturated fatty acid oxidation are incorporated in triglycerides but not in phospholipids in tissues from patients with mitochondrial β‐oxidation defects von Onkenhout, W., Venizelos, V., Scholte, H. R., Klerk, J. B. C., Poorthuis, B. J. H. M.

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