Saskia B Wortmann

Table 3. [New Classification for Inborn Errors...].

Saskia B Wortmann, Arjan P.M. de Brouwer, Ron A Wevers, 2014 .

Next-generation metabolic screening: targeted and untargeted metabolomics for the diagnosis of inborn errors of metabolism in individual patients

Jasper Engel, Christian Gilissen, Saskia B Wortmann, 2018, Journal of Inherited Metabolic Disease.

Mitochondrial dysfunction and organic aciduria in five patients carrying mutations in the Ras-MAPK pathway

Saskia B Wortmann, Eva Morava, Martin Lammens, 2011, European Journal of Human Genetics.

Mutation in mitochondrial ribosomal protein MRPS22 leads to Cornelia de Lange-like phenotype, brain abnormalities and hypertrophic cardiomyopathy

Saskia B Wortmann, Rolph Pfundt, R. Pfundt, 2011, European Journal of Human Genetics.