Reuser AJ - Search Results

1

Glycogen Storage Disease type II: genetic and biochemical analysis of novel mutations in infantile patients from Turkish ancestry.

Hermans MM, Kroos MA, Smeitink JA, van der Ploeg AT, Kleijer WJ, Reuser AJ. Hermans MM, et al. Among authors: reuser aj. Hum Mutat. 1998;11(3):209-15. doi: 10.1002/(SICI)1098-1004(1998)11:3<209::AID-HUMU5>3.0.CO;2-C. Hum Mutat. 1998. PMID: 9521422

2

Update of the Pompe disease mutation database with 107 sequence variants and a format for severity rating.

Kroos M, Pomponio RJ, van Vliet L, Palmer RE, Phipps M, Van der Helm R, Halley D, Reuser A; GAA Database Consortium. Kroos M, et al. Hum Mutat. 2008 Jun;29(6):E13-26. doi: 10.1002/humu.20745. Hum Mutat. 2008. PMID: 18425781

3

Update of the pompe disease mutation database with 60 novel GAA sequence variants and additional studies on the functional effect of 34 previously reported variants.

Kroos M, Hoogeveen-Westerveld M, Michelakakis H, Pomponio R, Van der Ploeg A, Halley D, Reuser A; GAA Database Consortium. Kroos M, et al. Hum Mutat. 2012 Aug;33(8):1161-5. doi: 10.1002/humu.22108. Epub 2012 May 29. Hum Mutat. 2012. PMID: 22644586

4

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

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

Glycogenosis type II: protein and DNA analysis in five South African families from various ethnic origins.

Van der Ploeg AT, Hoefsloot LH, Hoogeveen-Westerveld M, Petersen EM, Reuser AJ. Van der Ploeg AT, et al. Among authors: reuser aj. Am J Hum Genet. 1989 Jun;44(6):787-93. Am J Hum Genet. 1989. PMID: 2658562 Free PMC article.

7

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

8

Receptor-mediated uptake of acid alpha-glucosidase corrects lysosomal glycogen storage in cultured skeletal muscle.

Van der Ploeg AT, Loonen MC, Bolhuis PA, Busch HM, Reuser AJ, Galjaard H. Van der Ploeg AT, et al. Among authors: reuser aj. Pediatr Res. 1988 Jul;24(1):90-4. doi: 10.1203/00006450-198807000-00021. Pediatr Res. 1988. PMID: 2970619

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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