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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)

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|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 B<sub>6</sub> -dependent epilepsies.

Barbara Plecko

|Mar 29, 2023

Two Single Nucleotide Deletions in the <i>ABCD1</i> 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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Frequent Collaborators

2 joint publications

Michael R Speicher

2 joint publications

Regina Trollmann

1 joint publications

Guido Vogt

1 joint publications

Sarah Verheyen

1 joint publications

Sarina Schwartzmann

1 joint publications

Nadja Ehmke

1 joint publications

Manuel Holtgrewe

1 joint publications

Dominik Seelow

1 joint publications

Uwe Kornak

1 joint publications

Denise Horn

Frequent Collaborators

2 joint publications

Michael R Speicher

2 joint publications

Regina Trollmann

1 joint publications

Guido Vogt

1 joint publications

Sarah Verheyen

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