Plecko B - Search Results

1

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.

2

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

3

Sensory stimulus-sensitive drop attacks and basal ganglia calcification: new findings in a patient with FOLR1 deficiency.

Toelle SP, Wille D, Schmitt B, Scheer I, Thöny B, Plecko B. Toelle SP, et al. Among authors: plecko b. Epileptic Disord. 2014 Mar;16(1):88-92. doi: 10.1684/epd.2014.0629. Epileptic Disord. 2014. PMID: 24556562 Free article.

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

Infantile epileptic encephalopathy, transient choreoathetotic movements, and hypersomnia due to a De Novo missense mutation in the SCN2A gene.

Hackenberg A, Baumer A, Sticht H, Schmitt B, Kroell-Seger J, Wille D, Joset P, Papuc S, Rauch A, Plecko B. Hackenberg A, et al. Among authors: plecko b. Neuropediatrics. 2014 Aug;45(4):261-4. doi: 10.1055/s-0034-1372302. Epub 2014 Apr 7. Neuropediatrics. 2014. PMID: 24710820 Free article.

6

The clinical significance of small copy number variants in neurodevelopmental disorders.

Asadollahi R, Oneda B, Joset P, Azzarello-Burri S, Bartholdi D, Steindl K, Vincent M, Cobilanschi J, Sticht H, Baldinger R, Reissmann R, Sudholt I, Thiel CT, Ekici AB, Reis A, Bijlsma EK, Andrieux J, Dieux A, FitzPatrick D, Ritter S, Baumer A, Latal B, Plecko B, Jenni OG, Rauch A. Asadollahi R, et al. Among authors: plecko b. J Med Genet. 2014 Oct;51(10):677-88. doi: 10.1136/jmedgenet-2014-102588. Epub 2014 Aug 8. J Med Genet. 2014. PMID: 25106414 Free PMC article.

7

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.

8

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.

9

Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency.

Huemer M, Mulder-Bleile R, Burda P, Froese DS, Suormala T, Zeev BB, Chinnery PF, Dionisi-Vici C, Dobbelaere D, Gökcay G, Demirkol M, Häberle J, Lossos A, Mengel E, Morris AA, Niezen-Koning KE, Plecko B, Parini R, Rokicki D, Schiff M, Schimmel M, Sewell AC, Sperl W, Spiekerkoetter U, Steinmann B, Taddeucci G, Trejo-Gabriel-Galán JM, Trefz F, Tsuji M, Vilaseca MA, von Kleist-Retzow JC, Walker V, Zeman J, Baumgartner MR, Fowler B. Huemer M, et al. Among authors: plecko b. J Inherit Metab Dis. 2016 Jan;39(1):115-24. doi: 10.1007/s10545-015-9860-6. Epub 2015 May 30. J Inherit Metab Dis. 2016. PMID: 26025547 Free PMC article.

10

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

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