Reuser AJ - Search Results

1

The use of dried blood spot samples in the diagnosis of lysosomal storage disorders--current status and perspectives.

Reuser AJ, Verheijen FW, Bali D, van Diggelen OP, Germain DP, Hwu WL, Lukacs Z, Mühl A, Olivova P, Piraud M, Wuyts B, Zhang K, Keutzer J. Reuser AJ, et al. Mol Genet Metab. 2011 Sep-Oct;104(1-2):144-8. doi: 10.1016/j.ymgme.2011.07.014. Epub 2011 Jul 23. Mol Genet Metab. 2011. PMID: 21831684 Review.

2

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

3

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

4

A diagnostic protocol for adult-onset glycogen storage disease type II.

Ausems MG, Lochman P, van Diggelen OP, Ploos van Amstel HK, Reuser AJ, Wokke JH. Ausems MG, et al. Among authors: reuser aj. Neurology. 1999 Mar 10;52(4):851-3. doi: 10.1212/wnl.52.4.851. Neurology. 1999. PMID: 10078739

5

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.

6

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.

7

Asymptomatic and late-onset ornithine transcarbamylase (OTC) deficiency in males of a five-generation family, caused by an A208T mutation.

van Diggelen OP, Zaremba J, He W, Keulemans JL, Boer AM, Reuser AJ, Ausems MG, Smeitink JA, Kowalczyk J, Pronicka E, Rokicki D, Tarnowska-Dziduszko E, Kneppers AL, Bakker E. van Diggelen OP, et al. Among authors: reuser aj. Clin Genet. 1996 Nov;50(5):310-6. doi: 10.1111/j.1399-0004.1996.tb02380.x. Clin Genet. 1996. PMID: 9007316

8

Glycogen storage disease type II: birth prevalence agrees with predicted genotype frequency.

Ausems MG, ten Berg K, Kroos MA, van Diggelen OP, Wevers RA, Poorthuis BJ, Niezen-Koning KE, van der Ploeg AT, Beemer FA, Reuser AJ, Sandkuijl LA, Wokke JH. Ausems MG, et al. Among authors: reuser aj. Community Genet. 1999;2(2-3):91-6. doi: 10.1159/000016192. Community Genet. 1999. PMID: 15181339

9

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

10

Lysosomal storage diseases: cellular pathology, clinical and genetic heterogeneity, therapy.

Reuser AJ, Kroos MA, Visser WJ, Willemsen R. Reuser AJ, et al. Ann Biol Clin (Paris). 1994;52(10):721-8. Ann Biol Clin (Paris). 1994. PMID: 7747880 Review.

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