Plecko B - Search Results

1

Changes in the Cerebrospinal Fluid and Plasma Lipidome in Patients with Rett Syndrome.

Zandl-Lang M, Züllig T, Trötzmüller M, Naegelin Y, Abela L, Wilken B, Scholl-Buergi S, Karall D, Kappos L, Köfeler H, Plecko B. Zandl-Lang M, et al. Among authors: plecko b. Metabolites. 2022 Mar 25;12(4):291. doi: 10.3390/metabo12040291. Metabolites. 2022. PMID: 35448478 Free PMC article.

2

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: plecko b. 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

3

Fatal outcome of rhino-orbital-cerebral mucormycosis due to bilateral internal carotid occlusion in a child after hematopoietic stem cell transplantation.

Abela L, Toelle SP, Hackenberg A, Scheer I, Güngör T, Plecko B. Abela L, et al. Among authors: plecko b. Pediatr Infect Dis J. 2013 Oct;32(10):1149-50. doi: 10.1097/INF.0b013e31829e69e7. Pediatr Infect Dis J. 2013. PMID: 24067555

4

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

5

Early co-occurrence of a neurologic-psychiatric disease pattern in Niemann-Pick type C disease: a retrospective Swiss cohort study.

Abela L, Plecko B, Palla A, Burda P, Nuoffer JM, Ballhausen D, Rohrbach M. Abela L, et al. Among authors: plecko b. Orphanet J Rare Dis. 2014 Nov 26;9:176. doi: 10.1186/s13023-014-0176-7. Orphanet J Rare Dis. 2014. PMID: 25425405 Free PMC article.

6

Clinical outcome, biochemical and therapeutic follow-up in 14 Austrian patients with Long-Chain 3-Hydroxy Acyl CoA Dehydrogenase Deficiency (LCHADD).

Karall D, Brunner-Krainz M, Kogelnig K, Konstantopoulou V, Maier EM, Möslinger D, Plecko B, Sperl W, Volkmar B, Scholl-Bürgi S. Karall D, et al. Among authors: plecko b. Orphanet J Rare Dis. 2015 Feb 22;10:21. doi: 10.1186/s13023-015-0236-7. Orphanet J Rare Dis. 2015. PMID: 25888220 Free PMC article.

7

Clinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiency.

Ahting U, Mayr JA, Vanlander AV, Hardy SA, Santra S, Makowski C, Alston CL, Zimmermann FA, Abela L, Plecko B, Rohrbach M, Spranger S, Seneca S, Rolinski B, Hagendorff A, Hempel M, Sperl W, Meitinger T, Smet J, Taylor RW, Van Coster R, Freisinger P, Prokisch H, Haack TB. Ahting U, et al. Among authors: plecko b. Front Genet. 2015 Apr 13;6:123. doi: 10.3389/fgene.2015.00123. eCollection 2015. Front Genet. 2015. PMID: 25918518 Free PMC article.

8

N(8)-acetylspermidine as a potential plasma biomarker for Snyder-Robinson syndrome identified by clinical metabolomics.

Abela L, Simmons L, Steindl K, Schmitt B, Mastrangelo M, Joset P, Papuc M, Sticht H, Baumer A, Crowther LM, Mathis D, Rauch A, Plecko B. Abela L, et al. Among authors: plecko b. J Inherit Metab Dis. 2016 Jan;39(1):131-7. doi: 10.1007/s10545-015-9876-y. Epub 2015 Jul 15. J Inherit Metab Dis. 2016. PMID: 26174906 Free article.

9

The value of plasma vitamin B6 profiles in early onset epileptic encephalopathies.

Mathis D, Abela L, Albersen M, Bürer C, Crowther L, Beese K, Hartmann H, Bok LA, Struys E, Papuc SM, Rauch A, Hersberger M, Verhoeven-Duif NM, Plecko B. Mathis D, et al. Among authors: plecko b. J Inherit Metab Dis. 2016 Sep;39(5):733-741. doi: 10.1007/s10545-016-9955-8. Epub 2016 Jun 24. J Inherit Metab Dis. 2016. PMID: 27342130

10

Plasma metabolomics reveals a diagnostic metabolic fingerprint for mitochondrial aconitase (ACO2) deficiency.

Abela L, Spiegel R, Crowther LM, Klein A, Steindl K, Papuc SM, Joset P, Zehavi Y, Rauch A, Plecko B, Simmons TL. Abela L, et al. Among authors: plecko b. PLoS One. 2017 May 2;12(5):e0176363. doi: 10.1371/journal.pone.0176363. eCollection 2017. PLoS One. 2017. PMID: 28463998 Free PMC article.

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