1. Glycogenosis type II (acid maltase deficiency);Reuser, A.J.J.; Kroos, M.A.; Hermans, M.P.;Muscle Nerve,1995
2. Aberrant splicing in adult onset glycogen storage disease type II (GSDII): molecular identification of an IVS1 (-13T-4G) mutation in a majority of patients and a novel IVS 0 (+ I GT-*CT) mutation;Huie, M.L.; Chen, A.S.; Tsujino, S.;Hum Mol Genet,1994
3. Deletion of exon 18 is a frequent mutation in glycogen storage disease type II;der Kraan M, Van; MA, Kroos; M, Joosse;Biochem Biophys Res Commun,1994
4. A de novo 13 nt deletion, a newly identified C647W missense mutation and a deletion of exon 18 in infantile onset glycogen storage disease type II (GSDII);Hui, M.L.; Chen, A.S.; Sklower Brooks, S.; Grix, A.; Hirschhorn, R.;Hum Mol Genet,1994
5. The effect of a single base pair deletion (AT525) and a C1634T missense mutation (pro545leu) on the expression of lysosomal oeglucosidase in patients with glycogen storage disease type II;Hermans, M.M.P.; De Graaff, E.; Kroos, M.A.;Hum Mol Genet,1994