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3 Most Recent Publications
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Prenatal screening of sialic acid storage disease and confirmation in cultured fibroblasts by LC-MS/MS
(Article)
Bosch, J. van den Oemardien, L.F. Srebniak, M. Piraud, M. Huijmans, J. Verheijen, F.W. Ruijter, G.J.G. |
2011-10-01
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The use of dried blood spot samples in the diagnosis of lysosomal storage disorders - Current status and perspectives
(Article)
Reuser, A.J.J. Verheijen, F.W. Wuyts, B. Zhang, K. Keutzer, J. Bali, D. Diggelen, O.P. van Germain, D.P. Hwu, W.L. Lukacs, Z. Mühl, A. Olivova, P. Piraud, M. |
2011-09-01
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Methods for a prompt and reliable laboratory diagnosis of Pompe disease: Report from an international consensus meeting
(Article)
Winchester, B. Bali, D. Kishnani, P. Lacerda, L. Ledvinová, J. Lugowska, A. Lukacs, Z. Maire, I. Mandel, H. Mengel, E. Müller-Felber, W. Piraud, M. Bodamer, O.A. Reuser, A.J.J. Rupar, T. Sinigerska, I. Szlago, M. Verheijen, F.W. Diggelen, O.P. van Wuyts, B. Zakharova, E. Keutzer, J. Caillaud, C. Christensen, E. Cooper, A. Cupler, E. Deschauer, M. Fumić, K. Jackson, M. |
2008-03-01
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