Barbara Plecko

ORCID

Publication Activity (10 Years)

Years Active: 2020-2023
Publications (10 Years): 9

Top Venues

International journal of molecular sciences

Journal of inherited metabolic disease

Journal of medical genetics

Children (Basel, Switzerland)

Medical University of Graz

This page only lists publications with an associated author ORCID identifier.

Affiliation History

Medical University of Graz

Austria

Division Head of General Pediatrics :: Pediatrics and Adolescent Medicine

Publications

Katrin A Dohr, Silvija Tokic, Magdalena Gastager-Ehgartner, Tatjana Stojakovic, Miroslav Dumic, Barbara Plecko, Katja K Dumic
Two Single Nucleotide Deletions in the ABCD1 Gene Causing Distinct Phenotypes of X-Linked Adrenoleukodystrophy. International journal of molecular sciences 24 (6) (2023)
Barbara Plecko
On pathways and blind alleys - The importance of biomarkers in vitamin B 6 dependent epilepsies. Journal of inherited metabolic disease (2023)
Katrin A Dohr, Silvija Tokic, Magdalena Gastager-Ehgartner, Tatjana Stojakovic, Miroslav Dumic, Barbara Plecko, Katja K Dumic
Two Single Nucleotide Deletions in the ABCD1 Gene Causing Distinct Phenotypes of X-Linked Adrenoleukodystrophy. International journal of molecular sciences 24 (6) (2023)
Katrin A Dohr, Silvija Tokic, Magdalena Gastager-Ehgartner, Tatjana Stojakovic, Miroslav Dumic, Barbara Plecko, Katja K Dumic
Two Single Nucleotide Deletions in the ABCD1 Gene Causing Distinct Phenotypes of X-Linked Adrenoleukodystrophy. International journal of molecular sciences 24 (6) (2023)
Lisa M Crowther, Martin Poms, Martina Zandl-Lang, Lucia Abela, Hans Hartmann, Michelle Seiler, Déborah Mathis, Barbara Plecko
Metabolomics analysis of antiquitin deficiency in cultured human cells and plasma: Relevance to pyridoxine-dependent epilepsy. Journal of inherited metabolic disease (2022)
Guido Vogt, Sarah Verheyen, Sarina Schwartzmann, Nadja Ehmke, Cornelia Potratz, Anette Schwerin-Nagel, Barbara Plecko, Manuel Holtgrewe, Dominik Seelow, Jasmin Blatterer, Michael R Speicher, Uwe Kornak, Denise Horn, Stefan Mundlos, Björn Fischer-Zirnsak, Felix Boschann
Biallelic truncating variants in ATP9A cause a novel neurodevelopmental disorder involving postnatal microcephaly and failure to thrive. Journal of medical genetics (2021)
Rudolf Korinthenberg, Regina Trollmann, Barbara Plecko, Georg M Stettner, Markus Blankenburg, Joachim Weis, Benedikt Schoser, Wolfgang Müller-Felber, Nina Lochbuehler, Gabriele Hahn, Sabine Rudnik-Schöneborn
Differential Diagnosis of Acquired and Hereditary Neuropathies in Children and Adolescents-Consensus-Based Practice Guidelines. Children (Basel, Switzerland) 8 (8) (2021)
Sarah Verheyen, Jasmin Blatterer, Michael R Speicher, Gandham SriLakshmi Bhavani, Geert-Jan Boons, Mai-Britt Ilse, Dominik Andrae, Jens Sproß, Frédéric Maxime Vaz, Susanne G Kircher, Laura Posch-Pertl, Daniela Baumgartner, Torben Lübke, Hitesh Shah, Ali Al Kaissi, Katta Mohan Girisha, Barbara Plecko
Novel subtype of mucopolysaccharidosis caused by arylsulfatase K (ARSK) deficiency. Journal of medical genetics 59 (10) (2021)
Sarah Verheyen, Michael R Speicher, Barbara Ramler, Barbara Plecko
Childhood-onset epileptic encephalopathy due to FGF12 exon 1-4 tandem duplication. Neurology. Genetics 6 (5) (2020)

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Publication Activity (10 Years)

Top Topics

Top Venues

Barbara Plecko