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Browsing by Author Kroos, M.A.

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Full TextIssue DateTitleAuthor(s)
2008p.[G576S; E689K]: pathogenic combination or polymorphism in Pompe disease?Kroos, M.A.; Mullaart, R.A.; Vliet, L Van; Pomponio, R.J.; Amartino, H., et al
2004Long-term intravenous treatment of Pompe disease with recombinant human alpha-glucosidase from milk.Hout, J.M. van den; Kamphoven, J.H.; Winkel, L.P.; Arts, W.F.M.; Klerk, J.B.C. de, et al
2004Twenty-two novel mutations in the lysosomal alpha-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II.Hermans, M.M.P.; Leenen, D. van; Kroos, M.A.; Beesley, C.E.; Ploeg, A.T. van der, et al
1996Human alpha-N-acetylgalactosaminidase (alpha-NAGA) deficiency: new mutations and the paradox between genotype and phenotypeKeulemans, J.L.M.; Reuser, A.J.J.; Kroos, M.A.; Willemsen, R.; Hermans, M.M.P., et al
1996Homozygous deletion of exon 18 leads to degradation of the lysosomal alpha-glucosidase precursor and to the infantile form of glycogen storage disease type II.Ausems, M.G.E.M.; Kroos, M.A.; Kraan, M. van der; Smeitink, J.A.M.; Kleijer, W.J., et al
1995Glycogen storage disease type II : frequency of three common mutant alleles and their associated clinical phenotypes studies in 121 patientsKroos, M.A.; Kraan, M. van der; Diggelen, O.P. van; Kleijer, W.J.; Reuser, A.J.J., et al
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