Paschke E - Search Results

1

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: paschke e. Neurology. 2014 Apr 22;82(16):1425-33. doi: 10.1212/WNL.0000000000000344. Epub 2014 Mar 21. Neurology. 2014. PMID: 24658933 Free PMC article.

2

Pipecolic acid elevation in plasma and cerebrospinal fluid of two patients with pyridoxine-dependent epilepsy.

Plecko B, Stöckler-Ipsiroglu S, Paschke E, Erwa W, Struys EA, Jakobs C. Plecko B, et al. Among authors: paschke e. Ann Neurol. 2000 Jul;48(1):121-5. Ann Neurol. 2000. PMID: 10894227

3

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: paschke e. Hum Mutat. 2007 Jan;28(1):19-26. doi: 10.1002/humu.20433. Hum Mutat. 2007. PMID: 17068770

4

Positive outcome following early diagnosis and treatment of pyridoxal-5'-phosphate oxidase deficiency: a case report.

Porri S, Fluss J, Plecko B, Paschke E, Korff CM, Kern I. Porri S, et al. Among authors: paschke e. Neuropediatrics. 2014 Feb;45(1):64-8. doi: 10.1055/s-0033-1353489. Epub 2013 Sep 25. Neuropediatrics. 2014. PMID: 24297574

5

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: paschke e. J Inherit Metab Dis. 2002 Dec;25(8):695-6. doi: 10.1023/a:1022833332162. J Inherit Metab Dis. 2002. PMID: 12705499

6

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: paschke e. 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

7

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: paschke e. Hum Mutat. 2009 Aug;30(8):1214-21. doi: 10.1002/humu.21031. Hum Mutat. 2009. PMID: 19472408

8

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: paschke e. 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

9

[Strategies for the diagnosis of lysosomal storage diseases: symptoms, methods and samples].

Paschke E, Stöckler S. Paschke E, et al. Wien Klin Wochenschr. 1992;104(21):658-64. Wien Klin Wochenschr. 1992. PMID: 1475970 Review. German.

10

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: paschke e. Neuropediatrics. 2008 Oct;39(5):276-9. doi: 10.1055/s-0029-1202833. Epub 2009 Mar 17. Neuropediatrics. 2008. PMID: 19294602

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