Safety and recommendations for vaccinations of children with inborn errors of metabolism
Hady-Cohen, R., Dragoumi, P., Barca, D., Plecko, B., Lerman-Sagie, T., Zafeiriou, D.
Published in European journal of paediatric neurology (01.11.2021)
Published in European journal of paediatric neurology (01.11.2021)
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Treatment recommendations in long-chain fatty acid oxidation defects: consensus from a workshop
Spiekerkoetter, U, Lindner, M, Santer, R, Grotzke, M, Baumgartner, M. R, Boehles, H, Das, A, Haase, C, Hennermann, J. B, Karall, D, de Klerk, H, Knerr, I, Koch, H. G, Plecko, B, Röschinger, W, Schwab, K. O, Scheible, D, Wijburg, F. A, Zschocke, J, Mayatepek, E, Wendel, U
Published in Journal of inherited metabolic disease (01.08.2009)
Published in Journal of inherited metabolic disease (01.08.2009)
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VP26.11: Prenatal diagnosis of Aicardi syndrome: a case report
Eisnecker, K., Csapo, B., Gellen, J., Greimel, P., Nanda, M., Taumberger, N., Kasprian, G., Plecko, B., Speicher, I., Verheyen, N., Klaritsch, P.
Published in Ultrasound in obstetrics & gynecology (01.10.2020)
Published in Ultrasound in obstetrics & gynecology (01.10.2020)
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Epileptic Phenotypes, Electroclinical Features and Clinical Characteristics in 17 Children with Anti-NMDAR Encephalitis
Haberlandt, E., MD, Ensslen, M, Gruber-Sedlmayr, U, Plecko, B, Brunner-Krainz, M, Schimmel, M, Schubert-Bast, S, Neirich, U, Philippi, H, Kurleman, G, Tardieu, M, Wohlrab, G, Borggraefe, I, Rostásy, K
Published in European journal of paediatric neurology (01.05.2017)
Published in European journal of paediatric neurology (01.05.2017)
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Journal Article
Management and outcome in 75 individuals with long-chain fatty acid oxidation defects: results from a workshop
Spiekerkoetter, U, Lindner, M, Santer, R, Grotzke, M, Baumgartner, M. R, Boehles, H, Das, A, Haase, C, Hennermann, J. B, Karall, D, de Klerk, H, Knerr, I, Koch, H. G, Plecko, B, Röschinger, W, Schwab, K. O, Scheible, D, Wijburg, F. A, Zschocke, J, Mayatepek, E, Wendel, U
Published in Journal of inherited metabolic disease (01.08.2009)
Published in Journal of inherited metabolic disease (01.08.2009)
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Journal Article
Clinical onset and course, response to treatment and outcome in 24 patients with the cblE or cblG remethylation defect complemented by genetic and in vitro enzyme study data
Huemer, M., Bürer, C., Ješina, P., Kožich, V., Landolt, M. A., Suormala, T., Fowler, B., Augoustides- Savvopoulou, P., Blair, E., Brennerova, K., Broomfield, A., De Meirleir, L., Gökcay, G., Hennermann, J., Jardine, P., Koch, J., Lorenzl, S., Lotz-Havla, A. S., Noss, J., Parini, R., Peters, H., Plecko, B., Ramos, F. J., Schlune, A., Tsiakas, K., Zerjav Tansek, M., Baumgartner, M. R.
Published in Journal of inherited metabolic disease (01.09.2015)
Published in Journal of inherited metabolic disease (01.09.2015)
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Journal Article
P14. Anti-NMDA receptor encephalitis: A paediatric case report
Giarrana, M.L, Böttger, S, Plecko, B, Ehrenreich, T, Wohlrab, G
Published in Clinical neurophysiology (01.10.2014)
Published in Clinical neurophysiology (01.10.2014)
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Journal Article
Phenotype determining alleles in GM1 gangliosidosis patients bearing novel GLB1 mutations
Hofer, D, Paul, K, Fantur, K, Beck, M, Roubergue, A, Vellodi, A, Poorthuis, BJ, Michelakakis, H, Plecko, B, Paschke, E
Published in Clinical genetics (01.09.2010)
Published in Clinical genetics (01.09.2010)
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Journal Article
Pyridoxine dependent epilepsy: Is late onset a predictor for favorable outcome?
de Rooy, R.L.P., Halbertsma, F.J., Struijs, E.A., van Spronsen, F.J., Lunsing, R.J., Schippers, H.M., van Hasselt, P.M., Plecko, B., Wohlrab, G., Whalen, S., Benoist, J.F., Valence, S., Mills, P.B., Bok, L.A.
Published in European journal of paediatric neurology (01.07.2018)
Published in European journal of paediatric neurology (01.07.2018)
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GJA12 mutations are a rare cause of Pelizaeus-Merzbacher-like disease
Henneke, M, Combes, P, Diekmann, S, Bertini, E, Brockmann, K, Burlina, A P, Kaiser, J, Ohlenbusch, A, Plecko, B, Rodriguez, D, Boespflug-Tanguy, O, Gärtner, J
Published in Neurology (04.03.2008)
Published in Neurology (04.03.2008)
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P16. Neurologic-psychiatric disease patterns in Niemann-Pick type C disease: A cohort study on 14 Suisse patients
Abela, L, Plecko, B, Palla, A, Nuoffer, J.M, Ballhausen, D, Burda, P, Rohrbach, M
Published in Clinical neurophysiology (01.10.2014)
Published in Clinical neurophysiology (01.10.2014)
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Journal Article
Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome
Schulz, AL, Albrecht, B, Arici, C, Van Der Burgt, I, Buske, A, Gillessen-Kaesbach, G, Heller, R, Horn, D, Hübner, CA, Korenke, GC, König, R, Kress, W, Krüger, G, Meinecke, P, Mücke, J, Plecko, B, Rossier, E, Schinzel, A, Schulze, A, Seemanova, E, Seidel, H, Spranger, S, Tuysuz, B, Uhrig, S, Wieczorek, D, Kutsche, K, Zenker, M
Published in Clinical genetics (01.01.2008)
Published in Clinical genetics (01.01.2008)
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Journal Article
Pyridoxine dependent epilepsy: Is late onset a predictor for favorable outcome?
Bok, L.A, de Rooy, R.L.P, Halbertsma, F.J, Struys, E.A, van Spronsen, F.J, Lunsing, R.J, Schippers, H.M, van Hasselt, P.M, Plecko, B, Wohlrab, G, Wahlen, S, Benoist, J.F, Valence, S
Published in European journal of paediatric neurology (01.06.2017)
Published in European journal of paediatric neurology (01.06.2017)
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Journal Article
OP24 – 2321: FINGORETT – An ongoing phase I clinical study to assess safety and efficacy of oral fingolimod (FTY720) in children with Rett syndrome
Naegelin, Y, Barde, Y.A, Weber, P, Plecko, B, Datta, A.N, Kappos, L
Published in European journal of paediatric neurology (01.05.2015)
Published in European journal of paediatric neurology (01.05.2015)
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Journal Article
Pipecolic acid as a diagnostic marker of pyridoxine-dependent epilepsy
Plecko, B, Hikel, C, Korenke, G-C, Schmitt, B, Baumgartner, M, Baumeister, F, Jakobs, C, Struys, E, Erwa, W, Stöckler-Ipsiroglu, S
Published in Neuropediatrics (01.06.2005)
Published in Neuropediatrics (01.06.2005)
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Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy
Smeitink, Jan, Plecko, Barbara, Loeffen, Jan, Mariman, Edwin, Stöckler-Ipsiroglu, Sylvia, Heuvel, Lambert van den, Trijbels, Frans, Schuelke, Markus
Published in Nature genetics (01.03.1999)
Published in Nature genetics (01.03.1999)
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