Stöckler-Ipsiroglu S - 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

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

3

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. Ann Neurol. 2009 May;65(5):550-6. doi: 10.1002/ana.21568. Ann Neurol. 2009. PMID: 19142996

4

Metabolic epilepsies: approaches to a diagnostic challenge.

Stöckler-Ipsiroglu S, Plecko B. Stöckler-Ipsiroglu S, et al. Can J Neurol Sci. 2009 Aug;36 Suppl 2:S67-72. Can J Neurol Sci. 2009. PMID: 19760908 Review.

5

Profound neonatal hypoglycemia and lactic acidosis caused by pyridoxine-dependent epilepsy.

Mercimek-Mahmutoglu S, Horvath GA, Coulter-Mackie M, Nelson T, Waters PJ, Sargent M, Struys E, Jakobs C, Stockler-Ipsiroglu S, Connolly MB. Mercimek-Mahmutoglu S, et al. Pediatrics. 2012 May;129(5):e1368-72. doi: 10.1542/peds.2011-0123. Epub 2012 Apr 23. Pediatrics. 2012. PMID: 22529283

6

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

7

Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency.

Coughlin CR 2nd, Tseng LA, Abdenur JE, Ashmore C, Boemer F, Bok LA, Boyer M, Buhas D, Clayton PT, Das A, Dekker H, Evangeliou A, Feillet F, Footitt EJ, Gospe SM Jr, Hartmann H, Kara M, Kristensen E, Lee J, Lilje R, Longo N, Lunsing RJ, Mills P, Papadopoulou MT, Pearl PL, Piazzon F, Plecko B, Saini AG, Santra S, Sjarif DR, Stockler-Ipsiroglu S, Striano P, Van Hove JLK, Verhoeven-Duif NM, Wijburg FA, Zuberi SM, van Karnebeek CDM. Coughlin CR 2nd, et al. J Inherit Metab Dis. 2021 Jan;44(1):178-192. doi: 10.1002/jimd.12332. Epub 2020 Dec 1. J Inherit Metab Dis. 2021. PMID: 33200442

8

Variability of phenotype in two sisters with pyridoxine dependent epilepsy.

Alfadhel M, Sirrs S, Waters PJ, Szeitz A, Struys E, Coulter-Mackie M, Stockler-Ipsiroglu S. Alfadhel M, et al. Can J Neurol Sci. 2012 Jul;39(4):516-9. doi: 10.1017/s0317167100014050. Can J Neurol Sci. 2012. PMID: 22728861

9

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. Eur J Pediatr. 2001 May;160(5):277-82. doi: 10.1007/s004310100740. Eur J Pediatr. 2001. PMID: 11388594

10

Treatment of intractable epilepsy in a female with SLC6A8 deficiency.

Mercimek-Mahmutoglu S, Connolly MB, Poskitt KJ, Horvath GA, Lowry N, Salomons GS, Casey B, Sinclair G, Davis C, Jakobs C, Stockler-Ipsiroglu S. Mercimek-Mahmutoglu S, et al. Mol Genet Metab. 2010 Dec;101(4):409-12. doi: 10.1016/j.ymgme.2010.08.016. Epub 2010 Aug 26. Mol Genet Metab. 2010. PMID: 20846889

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