Contact details
Stefan Kölker
Main
Publications
Data source publications
- Early prediction of phenotypic severity in Citrullinemia Type 1
- From genotype to phenotype: Early prediction of disease severity in argininosuccinic aciduria
- Networking Across Borders for Individuals with Organic Acidurias and Urea Cycle Disorders: The E-IMD Consortium
- The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation
- The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype