Paul K - Search Results

1

Biochemical and molecular characterization of 18 patients with pyridoxine-dependent epilepsy and mutations of the antiquitin (ALDH7A1) gene.

Plecko B, Paul K, Paschke E, Stoeckler-Ipsiroglu S, Struys E, Jakobs C, Hartmann H, Luecke T, di Capua M, Korenke C, Hikel C, Reutershahn E, Freilinger M, Baumeister F, Bosch F, Erwa W. Plecko B, et al. Among authors: paul k. Hum Mutat. 2007 Jan;28(1):19-26. doi: 10.1002/humu.20433. Hum Mutat. 2007. PMID: 17068770

2

GM1 gangliosidosis and Morquio B disease: expression analysis of missense mutations affecting the catalytic site of acid beta-galactosidase.

Hofer D, Paul K, Fantur K, Beck M, Bürger F, Caillaud C, Fumic K, Ledvinova J, Lugowska A, Michelakakis H, Radeva B, Ramaswami U, Plecko B, Paschke E. Hofer D, et al. Among authors: paul k. Hum Mutat. 2009 Aug;30(8):1214-21. doi: 10.1002/humu.21031. Hum Mutat. 2009. PMID: 19472408

3

Pyridoxine responsiveness in novel mutations of the PNPO gene.

Plecko B, Paul K, Mills P, Clayton P, Paschke E, Maier O, Hasselmann O, Schmiedel G, Kanz S, Connolly M, Wolf N, Struys E, Stockler S, Abela L, Hofer D. Plecko B, et al. Among authors: paul k. Neurology. 2014 Apr 22;82(16):1425-33. doi: 10.1212/WNL.0000000000000344. Epub 2014 Mar 21. Neurology. 2014. PMID: 24658933 Free PMC article.

4

Intragenic deletions of ALDH7A1 in pyridoxine-dependent epilepsy caused by Alu-Alu recombination.

Mefford HC, Zemel M, Geraghty E, Cook J, Clayton PT, Paul K, Plecko B, Mills PB, Nordli DR Jr, Gospe SM Jr. Mefford HC, et al. Among authors: paul k. Neurology. 2015 Sep 1;85(9):756-62. doi: 10.1212/WNL.0000000000001883. Epub 2015 Jul 29. Neurology. 2015. PMID: 26224730 Free PMC article.

5

Pyridoxine-dependent epilepsy: normal outcome in a patient with late diagnosis after prolonged status epilepticus causing cortical blindness.

Kluger G, Blank R, Paul K, Paschke E, Jansen E, Jakobs C, Wörle H, Plecko B. Kluger G, et al. Among authors: paul k. Neuropediatrics. 2008 Oct;39(5):276-9. doi: 10.1055/s-0029-1202833. Epub 2009 Mar 17. Neuropediatrics. 2008. PMID: 19294602

6

A novel 6 bp insertion in exon 7 associated with an unusual phenotype in a family with Fabry disease.

Kroepfl T, Paul K, Kotanko P, Plecko B, Paschke E. Kroepfl T, et al. Among authors: paul k. J Inherit Metab Dis. 2002 Dec;25(8):695-6. doi: 10.1023/a:1022833332162. J Inherit Metab Dis. 2002. PMID: 12705499

7

Prevalence of tetrahydrobiopterine (BH4)-responsive alleles among Austrian patients with PAH deficiency: comprehensive results from molecular analysis in 147 patients.

Sterl E, Paul K, Paschke E, Zschocke J, Brunner-Krainz M, Windisch E, Konstantopoulou V, Möslinger D, Karall D, Scholl-Bürgi S, Sperl W, Lagler F, Plecko B. Sterl E, et al. Among authors: paul k. J Inherit Metab Dis. 2013 Jan;36(1):7-13. doi: 10.1007/s10545-012-9485-y. Epub 2012 Apr 25. J Inherit Metab Dis. 2013. PMID: 22526846

8

Phenotype determining alleles in GM1 gangliosidosis patients bearing novel GLB1 mutations.

Hofer D, Paul K, Fantur K, Beck M, Roubergue A, Vellodi A, Poorthuis BJ, Michelakakis H, Plecko B, Paschke E. Hofer D, et al. Among authors: paul k. Clin Genet. 2010 Sep;78(3):236-46. doi: 10.1111/j.1399-0004.2010.01379.x. Epub 2010 Feb 11. Clin Genet. 2010. PMID: 20175788

9

The frequency of common mutations among patients with mucopolysaccharidosis types I, II and IIIA diagnosed in Austria over the last 17 years.

Kroepfl T, Milos I, Paul K, Plecko B, Paschke E. Kroepfl T, et al. Among authors: paul k. Clin Genet. 2001 Nov;60(5):393-4. doi: 10.1034/j.1399-0004.2001.600513.x. Clin Genet. 2001. PMID: 11903343 No abstract available.

10

Anderson-Fabry disease: a case-finding study among male kidney transplant recipients in Austria.

Kleinert J, Kotanko P, Spada M, Pagliardini S, Paschke E, Paul K, Voigtländer T, Wallner M, Kramar R, Stummvoll HK, Schwarz C, Horn S, Holzer H, Födinger M, Sunder-Plassmann G. Kleinert J, et al. Among authors: paul k. Transpl Int. 2009 Mar;22(3):287-92. doi: 10.1111/j.1432-2277.2008.00791.x. Epub 2008 Oct 24. Transpl Int. 2009. PMID: 18954370 Free article.

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