Author

Sven F. Garbade

Heidelberg UniversityORCID 0000-0002-7420-4757Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2

Signature Assays, Organisms & Methods

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Research Focus:benchmarking· 2 Approach:statistical model· 2 Organism:human· 1

Frequent Co-Authors

Georg Friedrich HoffmanniD· 2 shared Matthias ZielonkaiD· 2 shared Stefan KölkeriD· 2 shared Anna T. Reischl‐HajiabadiiD· 1 shared Christian StaufneriD· 1 shared Elena Schnabel‐BessoniD· 1 shared Eugen MengeliD· 1 shared Florian GleichiD· 1 shared

Activity by Year

2020-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 33 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Georg Friedrich HoffmannORCID

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2 papers

Recent·Most cited

Impact of newborn screening on survival and neurocognitive outcome in classic isovaleric aciduria: a meta-analysis

Anna T. Reischl‐Hajiabadi, Sven F. Garbade, Florian Gleich, Elena Schnabel‐Besson, Roland Posset, Matthias Zielonka, Georg Friedrich Hoffmann, Stefan Kölker, Ulrike Mütze

This meta-analysis evaluates the impact of newborn screening on mortality and neurocognitive outcomes in classic isovaleric aciduria, finding reduced symptoms and mortality but not complete prevention of decompensation.

medRxiv · Apr 9, 2025 · PreprintGenetic & Genomic Medicine

FDA orphan drug designations for lysosomal storage disorders - a cross sectional analysis

Sven F. Garbade, Matthias Zielonka, Konstantin Mechler, Stefan Kölker, Georg Friedrich Hoffmann, Christian Staufner, Eugen Mengel, Markus Ries

The paper analyzes FDA orphan drug designations for lysosomal storage disorders, showing growth in approved therapies and diversification into small molecules and gene therapy.

PLoS ONE · Apr 8, 2020Peer-reviewedGenetic & Genomic Medicine