Ausems MG - Search Results

1

Asymptomatic and late-onset ornithine transcarbamylase deficiency caused by a A208T mutation: clinical, biochemical and DNA analyses in a four-generation family.

Ausems MG, Bakker E, Berger R, Duran M, van Diggelen OP, Keulemans JL, de Valk HW, Kneppers AL, Dorland L, Eskes PF, Beemer FA, Poll-The BT, Smeitink JA. Ausems MG, et al. Am J Med Genet. 1997 Jan 20;68(2):236-9. Am J Med Genet. 1997. PMID: 9028466 Free article.

2

Glycogen storage disease type II: frequency of three common mutant alleles and their associated clinical phenotypes studied in 121 patients.

Kroos MA, Van der Kraan M, Van Diggelen OP, Kleijer WJ, Reuser AJ, Van den Boogaard MJ, Ausems MG, Ploos van Amstel HK, Poenaru L, Nicolino M, et al. Kroos MA, et al. Among authors: ausems mg. J Med Genet. 1995 Oct;32(10):836-7. doi: 10.1136/jmg.32.10.836-a. J Med Genet. 1995. PMID: 8558570 Free PMC article. No abstract available.

3

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. Clin Genet. 1996 Jun;49(6):325-8. doi: 10.1111/j.1399-0004.1996.tb03801.x. Clin Genet. 1996. PMID: 8884087

4

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: ausems mg. Clin Genet. 1996 Nov;50(5):310-6. doi: 10.1111/j.1399-0004.1996.tb02380.x. Clin Genet. 1996. PMID: 9007316

5

Different phenotypic expression in relatives with fabry disease caused by a W226X mutation.

Knol IE, Ausems MG, Lindhout D, van Diggelen OP, Verwey H, Davies J, Ploos van Amstel JK, Poll-The BT. Knol IE, et al. Among authors: ausems mg. Am J Med Genet. 1999 Feb 19;82(5):436-9. doi: 10.1002/(sici)1096-8628(19990219)82:5<436::aid-ajmg14>3.0.co;2-x. Am J Med Genet. 1999. PMID: 10069717

6

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. Neurology. 1999 Mar 10;52(4):851-3. doi: 10.1212/wnl.52.4.851. Neurology. 1999. PMID: 10078739

7

Frequency of glycogen storage disease type II in The Netherlands: implications for diagnosis and genetic counselling.

Ausems MG, Verbiest J, Hermans MP, Kroos MA, Beemer FA, Wokke JH, Sandkuijl LA, Reuser AJ, van der Ploeg AT. Ausems MG, et al. Eur J Hum Genet. 1999 Sep;7(6):713-6. doi: 10.1038/sj.ejhg.5200367. Eur J Hum Genet. 1999. PMID: 10482961

8

Phenotypic expression of late-onset glycogen storage disease type II: identification of asymptomatic adults through family studies and review of reported families.

Ausems MG, ten Berg K, Beemer FA, Wokke JH. Ausems MG, et al. Neuromuscul Disord. 2000 Oct;10(7):467-71. doi: 10.1016/s0960-8966(00)00123-1. Neuromuscul Disord. 2000. PMID: 10996774 Review.

9

De novo recurrent germline mutation of the BRCA2 gene in a patient with early onset breast cancer.

van der Luijt RB, van Zon PH, Jansen RP, van der Sijs-Bos CJ, Wárlám-Rodenhuis CC, Ausems MG. van der Luijt RB, et al. Among authors: ausems mg. J Med Genet. 2001 Feb;38(2):102-5. doi: 10.1136/jmg.38.2.102. J Med Genet. 2001. PMID: 11158174 Free PMC article.

10

Juvenile and adult-onset acid maltase deficiency in France: genotype-phenotype correlation.

Ausems MG, Wokke JH, Reuser AJ, van Diggelen OP. Ausems MG, et al. Neurology. 2001 Nov 27;57(10):1938. doi: 10.1212/wnl.57.10.1938. Neurology. 2001. PMID: 11723305 No abstract available.

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