Resultats de la cerca - Plecko, Barbara

Multiomics tools for the diagnosis and treatment of rare neurological disease per Crowther, L. M., Poms, M., Plecko, Barbara

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Childhood-onset epileptic encephalopathy due to FGF12 exon 1–4 tandem duplication per Verheyen, Sarah, Speicher, Michael R., Ramler, Barbara, Plecko, Barbara

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The Effect of S-Adenosylmethionine on Self-Mutilation in a Patient with Lesch–Nyhan Disease per Lauber, Matthias, Plecko, Barbara, Pfiffner, Miriam, Nuoffer, Jean-Marc, Häberle, Johannes

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A Metabolomics Workflow for Analyzing Complex Biological Samples Using a Combined Method of Untargeted and Target-List Based Approaches per Züllig, Thomas, Zandl-Lang, Martina, Trötzmüller, Martin, Hartler, Jürgen, Plecko, Barbara, Köfeler, Harald C.

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Early co-occurrence of a neurologic-psychiatric disease pattern in Niemann-Pick type C disease: a retrospective Swiss cohort study per Abela, Lucia, Plecko, Barbara, Palla, Antonella, Burda, Patricie, Nuoffer, Jean-Marc, Ballhausen, Diana, Rohrbach, Marianne

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Untargeted plasma metabolomics identifies broad metabolic perturbations in glycogen storage disease type I per Mathis, Tamara, Poms, Martin, Köfeler, Harald, Gautschi, Matthias, Plecko, Barbara, Baumgartner, Matthias R., Hochuli, Michel

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Condensation of delta‐1‐piperideine‐6‐carboxylate with ortho‐aminobenzaldehyde allows its simple, fast, and inexpensive quantification in the urine of patients with antiquitin defi... per Boehm, Thomas, Hubmann, Holger, Petroczi, Karin, Mathis, Déborah, Klavins, Kristaps, Fauler, Guenter, Plecko, Barbara, Struys, Eduard, Jilma, Bernd

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Autoimmune phenotype with type I interferon signature in two brothers with ADA2 deficiency carrying a novel CECR1 mutation per Skrabl-Baumgartner, Andrea, Plecko, Barbara, Schmidt, Wolfgang M., König, Nadja, Hershfield, Michael, Gruber-Sedlmayr, Ursula, Lee-Kirsch, Min Ae

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Efficacy of a standardized tube weaning program in pediatric patients with feeding difficulties after successful repair of their esophageal atresia/tracheoesophageal fistula per Marinschek, Sabine, Pahsini, Karoline, Aguiriano-Moser, Victor, Russell, Marion, Plecko, Barbara, Reininghaus, Eva Z., Till, Holger, Dunitz-Scheer, Marguerite

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Cerebral folate deficiency in two siblings caused by biallelic variants including a novel mutation of FOLR1 gene: Intrafamilial heterogeneity following early treatment and the role... per Papadopoulou, Maria T., Dalpa, Efterpi, Portokalas, Michalis, Katsanika, Irene, Tirothoulaki, Katerina, Spilioti, Martha, Gerou, Spyros, Plecko, Barbara, Evangeliou, Athanasios E.

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Clinical outcome, biochemical and therapeutic follow-up in 14 Austrian patients with Long-Chain 3-Hydroxy Acyl CoA Dehydrogenase Deficiency (LCHADD) per Karall, Daniela, Brunner-Krainz, Michaela, Kogelnig, Katharina, Konstantopoulou, Vassiliki, Maier, Esther M, Möslinger, Dorothea, Plecko, Barbara, Sperl, Wolfgang, Volkmar, Barbara, Scholl-Bürgi, Sabine

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Intragenic deletions of ALDH7A1 in pyridoxine-dependent epilepsy caused by Alu-Alu recombination per Mefford, Heather C., Zemel, Matthew, Geraghty, Eileen, Cook, Joseph, Clayton, Peter T., Paul, Karl, Plecko, Barbara, Mills, Philippa B., Nordli, Douglas R., Gospe, Sidney M.

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Changes in the Cerebrospinal Fluid and Plasma Lipidome in Patients with Rett Syndrome per Zandl-Lang, Martina, Züllig, Thomas, Trötzmüller, Martin, Naegelin, Yvonne, Abela, Lucia, Wilken, Bernd, Scholl-Buergi, Sabine, Karall, Daniela, Kappos, Ludwig, Köfeler, Harald, Plecko, Barbara

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Plasma metabolomics reveals a diagnostic metabolic fingerprint for mitochondrial aconitase (ACO2) deficiency per Abela, Lucia, Spiegel, Ronen, Crowther, Lisa M., Klein, Andrea, Steindl, Katharina, Papuc, Sorina Mihaela, Joset, Pascal, Zehavi, Yoav, Rauch, Anita, Plecko, Barbara, Simmons, Thomas Luke

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A retrospective study on disease management in children and adolescents with phenylketonuria during the Covid-19 pandemic lockdown in Austria per Herle, Marion, Brunner-Krainz, Michaela, Karall, Daniela, Goeschl, Bernadette, Möslinger, Dorothea, Zobel, Joachim, Plecko, Barbara, Scholl-Bürgi, Sabine, Spenger, Johannes, Wortmann, Saskia B., Huemer, Martina

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Differential Diagnosis of Acquired and Hereditary Neuropathies in Children and Adolescents—Consensus-Based Practice Guidelines per Korinthenberg, Rudolf, Trollmann, Regina, Plecko, Barbara, Stettner, Georg M., Blankenburg, Markus, Weis, Joachim, Schoser, Benedikt, Müller-Felber, Wolfgang, Lochbuehler, Nina, Hahn, Gabriele, Rudnik-Schöneborn, Sabine

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Elevated Homocysteine after Elevated Propionylcarnitine or Low Methionine in Newborn Screening Is Highly Predictive for Low Vitamin B12 and Holo-Transcobalamin Levels in Newborns per Rozmarič, Tomaž, Mitulović, Goran, Konstantopoulou, Vassiliki, Goeschl, Bernadette, Huemer, Martina, Plecko, Barbara, Spenger, Johannes, Wortmann, Saskia B., Scholl-Bürgi, Sabine, Karall, Daniela, Greber-Platzer, Susanne, Zeyda, Maximilian

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Pyridoxine responsiveness in novel mutations of the PNPO gene per Plecko, Barbara, Paul, Karl, Mills, Philippa, Clayton, Peter, Paschke, Eduard, Maier, Oliver, Hasselmann, Oswald, Schmiedel, Gudrun, Kanz, Simone, Connolly, Mary, Wolf, Nicole, Struys, Eduard, Stockler, Sylvia, Abela, Lucia, Hofer, Doris

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Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome per Kolanczyk, Mateusz, Krawitz, Peter, Hecht, Jochen, Hupalowska, Anna, Miaczynska, Marta, Marschner, Katrin, Schlack, Claire, Emmerich, Denise, Kobus, Karolina, Kornak, Uwe, Robinson, Peter N, Plecko, Barbara, Grangl, Gernot, Uhrig, Sabine, Mundlos, Stefan, Horn, Denise

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Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome per Kolanczyk, Mateusz, Krawitz, Peter, Hecht, Jochen, Hupalowska, Anna, Miaczynska, Marta, Marschner, Katrin, Schlack, Claire, Emmerich, Denise, Kobus, Karolina, Kornak, Uwe, Robinson, Peter N, Plecko, Barbara, Grangl, Gernot, Uhrig, Sabine, Mundlos, Stefan, Horn, Denise

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