Plasma globotriaosylsphingosine: Diagnostic value and relation to clinical manifestations of Fabry disease von Rombach, S.M., Dekker, N., Bouwman, M.G., Linthorst, G.E., Zwinderman, A.H., Wijburg, F.A., Kuiper, S., vd Bergh Weerman, M.A., Groener, J.E.M., Poorthuis, B.J., Hollak, C.E.M., Aerts, J.M.F.G.

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Fabry disease: classic phenotype in alarge family affected by a novel mutation (A292T) in the α-galactosidase a gene von Spanu, C, Lekanne Deprez, R.H, Poorthuis, B.J, Nita, C, Drugan, C, Craciun, C, Kacso, I, Todea, V, Tibre, V, Pops, S

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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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Fabry disease: classic phenotype in alarge family affected by a novel mutation (A292T) in the [alpha]-galactosidase a gene von Spanu, C, Lekanne Deprez, R.H, Poorthuis, B.J, Nita, C, Drugan, C, Craciun, C, Kacso, I, Todea, V, Tibre, V, Pops, S

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Reduction of elevated plasma globotriaosylsphingosine in patients with classic Fabry disease following enzyme replacement therapy von Breemen, M.J. van, Rombach, S.M., Dekker, N., Poorthuis, B.J., Linthorst, G.E., Zwinderman, A.H., Breunig, F., Wanner, C., Aerts, J.M.F.G., Hollak, C.E.

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Plasma globotriaosylsphingosine: diagnostic value and relation to clinical manifestations of Fabry disease von Rombach, S.M., Dekker, N., Bouwman, M.G., Linthorst, G.E., Zwinderman, A.H., Wijburg, F.A., Kuiper, S., Weerrnan van der Berg, M.A., Groener, J.E.M., Poorthuis, B.J., Hollak, C.E.M., Aerts, J.M.F.G.

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Phospholipid transfer proteins in rat lung. Identification of a protein specific for phosphatidylglycerol von van Golde, L M, Oldenborg, V, Post, M, Batenburg, J J, Poorthuis, B J, Wirtz, K W

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Elevated globotriaosylsphingosine is a hallmark of Fabry disease von Aerts, J.M.F.G., Groener, J.E., Kuiper, S., Donker-Koopman, W.E., Strijland, A., Ottenhoff, R., Roomen, C. van, Mirzaian, M., Wijburg, F.A., Linthorst, G.E., Vedder, A.C., Rombach, S.M., Cox-Brinkman, J., Somerharju, P., Boot, R.G., Hollak, C.E., Brady, R.O., Poorthuis, B.J.

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MICROTEST FOR DETERMINATION OF α-L-IDURONIDASE IN PLASMA AND LEUCOCYTES AND ITS POTENTIAL FOR DIAGNOSING α-L-IDURONIDASE DEFICIENCY von Den Tandt, W.R., Scharpe, S., Giesberts, M., Poorthuis, B.J.

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Mechanism of phosphatidylinostiol stimulation of lysosomal bis (monoacylglyceryl)phosphate synthesis von Matsuzawa, Y, Poorthuis, B J, Hostetler, K Y

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I Like me if you like me: On the interpersonal modulation and regulation of preadolescents’ self-esteem von Thomaes, S, Reijntjes, A.H.A, Orobio de Castro, B, Bushman, B.J, Poorthuis, A.M.G, Telch, M.J

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