SM-Youtube

1

The effect of a single base pair deletion (delta T525) and a C1634T missense mutation (pro545leu) on the expression of lysosomal alpha-glucosidase in patients with glycogen storage disease type II.

Hermans MM, De Graaff E, Kroos MA, Mohkamsing S, Eussen BJ, Joosse M, Willemsen R, Kleijer WJ, Oostra BA, Reuser AJ. Hermans MM, et al. Among authors: reuser aj. Hum Mol Genet. 1994 Dec;3(12):2213-8. doi: 10.1093/hmg/3.12.2213. Hum Mol Genet. 1994. PMID: 7881422

2

Identification of a point mutation in the human lysosomal alpha-glucosidase gene causing infantile glycogenosis type II.

Hermans MM, de Graaff E, Kroos MA, Wisselaar HA, Oostra BA, Reuser AJ. Hermans MM, et al. Among authors: reuser aj. Biochem Biophys Res Commun. 1991 Sep 16;179(2):919-26. doi: 10.1016/0006-291x(91)91906-s. Biochem Biophys Res Commun. 1991. PMID: 1898413

3

Intravenous administration of phosphorylated acid alpha-glucosidase leads to uptake of enzyme in heart and skeletal muscle of mice.

Van der Ploeg AT, Kroos MA, Willemsen R, Brons NH, Reuser AJ. Van der Ploeg AT, et al. Among authors: reuser aj. J Clin Invest. 1991 Feb;87(2):513-8. doi: 10.1172/JCI115025. J Clin Invest. 1991. PMID: 1991835 Free PMC article.

4

Expression and routeing of human lysosomal alpha-glucosidase in transiently transfected mammalian cells.

Hoefsloot LH, Willemsen R, Kroos MA, Hoogeveen-Westerveld M, Hermans MM, Van der Ploeg AT, Oostra BA, Reuser AJ. Hoefsloot LH, et al. Among authors: reuser aj. Biochem J. 1990 Dec 1;272(2):485-92. doi: 10.1042/bj2720485. Biochem J. 1990. PMID: 2268275 Free PMC article.

5

Adult and infantile glycogenosis type II in one family, explained by allelic diversity.

Hoefsloot LH, van der Ploeg AT, Kroos MA, Hoogeveen-Westerveld M, Oostra BA, Reuser AJ. Hoefsloot LH, et al. Among authors: reuser aj. Am J Hum Genet. 1990 Jan;46(1):45-52. Am J Hum Genet. 1990. PMID: 2403755 Free PMC article.

6

An investigation of the possible influence of neutral alpha-glucosidases on the clinical heterogeneity of glycogenosis type II.

Van der Ploeg AT, Kroos MA, Swallow DM, Reuser AJ. Van der Ploeg AT, et al. Among authors: reuser aj. Ann Hum Genet. 1989 May;53(2):185-92. doi: 10.1111/j.1469-1809.1989.tb01783.x. Ann Hum Genet. 1989. PMID: 2688540

7

Primary structure and processing of lysosomal alpha-glucosidase; homology with the intestinal sucrase-isomaltase complex.

Hoefsloot LH, Hoogeveen-Westerveld M, Kroos MA, van Beeumen J, Reuser AJ, Oostra BA. Hoefsloot LH, et al. Among authors: reuser aj. EMBO J. 1988 Jun;7(6):1697-704. doi: 10.1002/j.1460-2075.1988.tb02998.x. EMBO J. 1988. PMID: 3049072 Free PMC article.

8

Cell-free translation of human lysosomal alpha-glucosidase: evidence for reduced precursor synthesis in an adult patient with glycogenosis type II.

van der Horst GT, Hoefsloot EH, Kroos MA, Reuser AJ. van der Horst GT, et al. Among authors: reuser aj. Biochim Biophys Acta. 1987 Nov 20;910(2):123-9. doi: 10.1016/0167-4781(87)90064-9. Biochim Biophys Acta. 1987. PMID: 3315002

9

Prenatal diagnosis of glycogen storage disease type II: enzyme assay or mutation analysis?

Kleijer WJ, van der Kraan M, Kroos MA, Groener JE, van Diggelen OP, Reuser AJ, van der Ploeg AT. Kleijer WJ, et al. Among authors: reuser aj. Pediatr Res. 1995 Jul;38(1):103-6. doi: 10.1203/00006450-199507000-00018. Pediatr Res. 1995. PMID: 7478785

10

Glycogenosis type II (acid maltase deficiency).

Reuser AJ, Kroos MA, Hermans MM, Bijvoet AG, Verbeet MP, Van Diggelen OP, Kleijer WJ, Van der Ploeg AT. Reuser AJ, et al. Muscle Nerve Suppl. 1995;3:S61-9. doi: 10.1002/mus.880181414. Muscle Nerve Suppl. 1995. PMID: 7603530 Free article. Review.

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