Barbara Plecko

8PUBLICATIONS
49CO-AUTHORS
NeurogeneticsMolecular targetsDevelopmental genetics (incl. sex determination)Medical biochemistry - amino acids and metabolitesMedical biochemistry - proteins and peptides (incl. medical proteomics)
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Publications (8)

|Sep 12, 2025
Phenotypic intrafamilial variability of 5q-associated spinal muscular atrophy: A systematic multicentre sibling study.

Benedikt Becker, Isabell Cordts, Jutta Becker

|Jul 10, 2023
On pathways and blind alleys-The importance of biomarkers in vitamin B6 -dependent epilepsies.

Barbara Plecko

|Mar 29, 2023
Two Single Nucleotide Deletions in the ABCD1 Gene Causing Distinct Phenotypes of X-Linked Adrenoleukodystrophy.

Katrin A Dohr, Silvija Tokic, Magdalena Gastager-Ehgartner

|Oct 13, 2022
Metabolomics analysis of antiquitin deficiency in cultured human cells and plasma: Relevance to pyridoxine-dependent epilepsy.

Lisa M Crowther, Martin Poms, Martina Zandl-Lang

|Dec 17, 2021
Novel subtype of mucopolysaccharidosis caused by arylsulfatase K (ARSK) deficiency.

Sarah Verheyen, Jasmin Blatterer, Michael R Speicher

|Aug 27, 2021
Differential Diagnosis of Acquired and Hereditary Neuropathies in Children and Adolescents-Consensus-Based Practice Guidelines.

Rudolf Korinthenberg, Regina Trollmann, Barbara Plecko

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