Plecko B - Search Results

1

Severely depressed natural killer cell activity of patients with adrenoleukodystrophy under treatment with Lorenzo's oil.

Sedlmayr P, Plecko B, Paschke E, Zenz W, Ramschak H, Toplak H, Wascher TC, Wilders-Truschnig M, Stöckler S. Sedlmayr P, et al. Among authors: plecko b. J Inherit Metab Dis. 1995;18(1):101-2. doi: 10.1007/BF00711394. J Inherit Metab Dis. 1995. PMID: 7623436 No abstract available.

2

Giant platelets in erucic acid therapy for adrenoleukodystrophy.

Stöckler S, Molzer B, Plecko B, Zenz W, Muntean W, Söling U, Hunneman DH, Korenke C, Hanefeld F. Stöckler S, et al. Among authors: plecko b. Lancet. 1993 May 29;341(8857):1414-5. doi: 10.1016/0140-6736(93)90984-o. Lancet. 1993. PMID: 8098819 No abstract available.

3

Liposomal amphotericin-B (AmBisome) for treatment of cutaneous widespread candidosis in an infant with methylmalonic acidaemia.

Stöckler S, Lackner H, Ginter G, Schwinger W, Plecko B, Müller W. Stöckler S, et al. Among authors: plecko b. Eur J Pediatr. 1993 Dec;152(12):981-3. doi: 10.1007/BF01957220. Eur J Pediatr. 1993. PMID: 8131816

4

[New aspects in diagnosis and therapy of hereditary diseases of the nervous and skeletal systems].

Plecko B, Paschke E. Plecko B, et al. Wien Klin Wochenschr. 1997 Feb 14;109(3):65-7. Wien Klin Wochenschr. 1997. PMID: 9139463 German. No abstract available.

5

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. Ann Neurol. 2000 Jul;48(1):121-5. Ann Neurol. 2000. PMID: 10894227

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

7

Rapid determination of urinary globotriaosylceramide isoform profiles by electrospray ionization mass spectrometry using stearoyl-d35-globotriaosylceramide as internal standard.

Fauler G, Rechberger GN, Devrnja D, Erwa W, Plecko B, Kotanko P, Breunig F, Paschke E. Fauler G, et al. Among authors: plecko b. Rapid Commun Mass Spectrom. 2005;19(11):1499-506. doi: 10.1002/rcm.1948. Rapid Commun Mass Spectrom. 2005. PMID: 15880667

8

Copper concentration of liver tissue under long-term copper-histidine therapy in a patient with Menkes disease.

Kroepfl T, Mair E, Deutsch J, Brunner-Krainz M, Paschke E, Plecko B. Kroepfl T, et al. Among authors: plecko b. J Inherit Metab Dis. 2006 Aug;29(4):593. doi: 10.1007/s10545-006-0312-1. Epub 2006 Jun 19. J Inherit Metab Dis. 2006. PMID: 16786254

9

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

10

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

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