Georg Friedrich Hoffmann

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

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.

Personalised metabolic whole-body models for newborns and infants predict growth and biomarkers of inherited metabolic diseases

aRgus: multilevel visualization of non-synonymous single nucleotide variants & advanced pathogenicity score modeling for genetic vulnerability assessment

aRgus provides a webtool for visualizing and analyzing non-synonymous variants with pathogenicity scoring to assess genetic vulnerability.

In vivo high-content screening in zebrafish for developmental nephrotoxicity of approved drugs

The paper screens approved drugs for developmental nephrotoxicity in zebrafish embryos using high-content imaging and analysis tools, identifying 10% of tested drugs as potentially nephrotoxic.

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

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