Two novel mutations in SLC6A8 cause creatine transporter defect and distinctive X-linked mental retardation in two unrelated Dutch families von Mancini, G.M.S., Catsman-Berrevoets, C.E., de Coo, I.F.M., Aarsen, F.K., Kamphoven, J.H.J., Huijmans, J.G., Duran, M., van der Knaap, M.S., Jakobs, C., Salomons, G.S.

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Cardiac remodeling and contractile function in acid alpha-glucosidase knockout mice von Kamphoven, J H, Stubenitsky, R, Reuser, A J, Van Der Ploeg, A T, Verdouw, P D, Duncker, D J

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Hearing loss in infantile Pompe's disease and determination of underlying pathology in the knockout mouse von Kamphoven, Joep H.J, de Ruiter, Martijn M, Winkel, Leon P.F, Van den Hout, Hannerieke M.P, Bijman, Jan, De Zeeuw, Chris I, Hoeve, Hans L, Van Zanten, Bert A, Van der Ploeg, Ans T, Reuser, Arnold J.J

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Long-term intravenous treatment of pompe disease with recombinant human [alpha]-glucosidase from milk von Van den Hout, Johanna M.P, Kamphoven, Joep H.J, Winkel, Leon P.F, Arts, Willem F.M, De Klerk, Johannes B.C, Loonen, Christa B, Vulto, Arnold G, Cromme-Dijkhuis, Adri, WeisglasKuperns, Nynke, Hop, Wim, Van Hirtum, Hans, Van Diggelen, Otto P, Boer, Marijke, Kroos, Marian A, Van Doom, Pieter A, Van der Voort, Edwin, Sibbles, Barbara, Van Corven, Emiel J.J.M, Brakenhoff, Just P.J, Van Hove, Johan, Smeitink, Jan A.M, de Jong, Gerard, Reuser, Arnold J.J, Van der Ploeg, Arts T

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Cardiac remodeling and contractile function in acid {{alpha}}-glucosidase knockout mice von KAMPHOVEN, JOEP H. J, STUBENITSKY, RENE, REUSER, ARNOLD J. J, VAN DER PLOEG, ANS T, VERDOUW, PIETER D, DUNCKER, DIRK J

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