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Smit, G.P.

( G.P. Smit)


patient disease pompe dutch literature glycogen dutch patients storage glycogen storage disease mutation dutch patient group glucosidase month study group glycogenosis type ii enzyme heart erasmus rotterdam glycogenosi deficiency course pediatrics therapy acid maltase deficiency weight rotterdam symptom erasmu van der ploeg enzyme therapy report death pompe disease november activity survival effect department 2 patients information hypertrophy glucosidase activity hospital motor enzyme replacement therapy children value article downloaded genet reuser increase measurement result www.pediatrics.org pediatr glycogen disease problem 133 cases range 1753shift review j pediatr glucosidase deficiency infant maltase literature hannerieke m population netherland examination 20 dutch patients hum mol genet dutch patient population deletion type ii glycogenosis center development disease downloaded case reports




1 Most Recent Publications

The natural course of infantile Pompe's disease: 20 original cases compared with 133 cases from the literature (Article)
Hout, J.M.P. van den Ploeg, A.T. van der Hop, W.C.J. Diggelen, O.P. van Smeitink, J.A. Smit, G.P. Poll-The, B.T. Bakker, H.D. Loonen, M.C.B. Klerk, J.B. Reuser, A.J.J.
2003-01-01