Reuser AJ - Search Results

1

Biosynthesis of human alpha-N-acetylgalactosaminidase: defective phosphorylation and maturation in infantile alpha-NAGA deficiency.

Hu P, Reuser AJ, Janse HC, Kleijer WJ, Schindler D, Sakuraba H, Tsuji A, Suzuki Y, van Diggelen OP. Hu P, et al. Among authors: reuser aj. Biochem Biophys Res Commun. 1991 Mar 29;175(3):1097-103. doi: 10.1016/0006-291x(91)91678-6. Biochem Biophys Res Commun. 1991. PMID: 2025241

2

Human alpha-N-acetylgalactosaminidase (alpha-NAGA) deficiency: new mutations and the paradox between genotype and phenotype.

Keulemans JL, Reuser AJ, Kroos MA, Willemsen R, Hermans MM, van den Ouweland AM, de Jong JG, Wevers RA, Renier WO, Schindler D, Coll MJ, Chabas A, Sakuraba H, Suzuki Y, van Diggelen OP. Keulemans JL, et al. Among authors: reuser aj. J Med Genet. 1996 Jun;33(6):458-64. doi: 10.1136/jmg.33.6.458. J Med Genet. 1996. PMID: 8782044 Free PMC article.

3

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

4

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.

5

Deletion of exon 18 is a frequent mutation in glycogen storage disease type II.

Van der Kraan M, Kroos MA, Joosse M, Bijvoet AG, Verbeet MP, Kleijer WJ, Reuser AJ. Van der Kraan M, et al. Among authors: reuser aj. Biochem Biophys Res Commun. 1994 Sep 30;203(3):1535-41. doi: 10.1006/bbrc.1994.2360. Biochem Biophys Res Commun. 1994. PMID: 7945303

6

Homozygous 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 MG, Kroos MA, Van der Kraan M, Smeitink JA, Kleijer WJ, Ploos van Amstel HK, Reuser AJ. Ausems MG, et al. Among authors: reuser aj. Clin Genet. 1996 Jun;49(6):325-8. doi: 10.1111/j.1399-0004.1996.tb03801.x. Clin Genet. 1996. PMID: 8884087

7

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

8

HindIII/EcoRI polymorphism in the GAA gene.

Hoefsloot LH, Hoogeveen-Westerveld M, Sakuraba H, Suzuki Y, Oostra BA, Reuser AJ. Hoefsloot LH, et al. Among authors: reuser aj. Nucleic Acids Res. 1990 Oct 11;18(19):5921. doi: 10.1093/nar/18.19.5921. Nucleic Acids Res. 1990. PMID: 1977144 Free PMC article.

9

Two extremes of the clinical spectrum of glycogen storage disease type II in one family: a matter of genotype.

Kroos MA, Van der Kraan M, Van Diggelen OP, Kleijer WJ, Reuser AJ. Kroos MA, et al. Among authors: reuser aj. Hum Mutat. 1997;9(1):17-22. doi: 10.1002/(SICI)1098-1004(1997)9:1<17::AID-HUMU3>3.0.CO;2-M. Hum Mutat. 1997. PMID: 8990003

10

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

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