Plecko B - Search Results

1

Pipecolic acid as a diagnostic marker of pyridoxine-dependent epilepsy.

Plecko B, Hikel C, Korenke GC, Schmitt B, Baumgartner M, Baumeister F, Jakobs C, Struys E, Erwa W, Stöckler-Ipsiroglu S. Plecko B, et al. Neuropediatrics. 2005 Jun;36(3):200-5. doi: 10.1055/s-2005-865727. Neuropediatrics. 2005. PMID: 15944906

2

Partial N-acetylglutamate synthetase deficiency in a 13-year-old girl: diagnosis and response to treatment with N-carbamylglutamate.

Plecko B, Erwa W, Wermuth B. Plecko B, et al. Eur J Pediatr. 1998 Dec;157(12):996-8. doi: 10.1007/s004310050985. Eur J Pediatr. 1998. PMID: 9877039

3

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

4

Clinical and neuropsychological outcome in 33 patients with biotinidase deficiency ascertained by nationwide newborn screening and family studies in Austria.

Möslinger D, Stöckler-Ipsiroglu S, Scheibenreiter S, Tiefenthaler M, Mühl A, Seidl R, Strobl W, Plecko B, Suormala T, Baumgartner ER. Möslinger D, et al. Among authors: plecko b. Eur J Pediatr. 2001 May;160(5):277-82. doi: 10.1007/s004310100740. Eur J Pediatr. 2001. PMID: 11388594

5

Degree of hypomyelination and magnetic resonance spectroscopy findings in patients with Pelizaeus Merzbacher phenotype.

Plecko B, Stöckler-Ipsiroglu S, Gruber S, Mlynarik V, Moser E, Simbrunner J, Ebner F, Bernert G, Harrer G, Gal A, Prayer D. Plecko B, et al. Neuropediatrics. 2003 Jun;34(3):127-36. doi: 10.1055/s-2003-41276. Neuropediatrics. 2003. PMID: 12910435

6

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

7

Pipecolic acid concentrations in brain tissue of nutritionally pyridoxine-deficient rats.

Plecko B, Hoeger H, Jakobs C, Struys E, Stromberger C, Leschnik M, Muehl A, Stoeckler-Ipsiroglu S. Plecko B, et al. J Inherit Metab Dis. 2005;28(5):689-93. doi: 10.1007/s10545-005-0071-4. J Inherit Metab Dis. 2005. PMID: 16151899

8

Mutations in antiquitin in individuals with pyridoxine-dependent seizures.

Mills PB, Struys E, Jakobs C, Plecko B, Baxter P, Baumgartner M, Willemsen MA, Omran H, Tacke U, Uhlenberg B, Weschke B, Clayton PT. Mills PB, et al. Among authors: plecko b. Nat Med. 2006 Mar;12(3):307-9. doi: 10.1038/nm1366. Epub 2006 Feb 19. Nat Med. 2006. PMID: 16491085

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

Folinic acid-responsive seizures are identical to pyridoxine-dependent epilepsy.

Gallagher RC, Van Hove JL, Scharer G, Hyland K, Plecko B, Waters PJ, Mercimek-Mahmutoglu S, Stockler-Ipsiroglu S, Salomons GS, Rosenberg EH, Struys EA, Jakobs C. Gallagher RC, et al. Among authors: plecko b. Ann Neurol. 2009 May;65(5):550-6. doi: 10.1002/ana.21568. Ann Neurol. 2009. PMID: 19142996

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