Treatable inherited metabolic disorders causing intellectual disability: 2021 review and digital app

by Eva M. M. Hoytema van Konijnenburg, Saskia B. Wortmann, Marina J. Koelewijn, Laura A. Tseng, Roderick Houben, Sylvia Stöckler-Ipsiroglu, Carlos R. Ferreira, Clara D. M. van Karnebeek
Published 2021-04-01

A Scoping Review of Inborn Errors of Metabolism Causing Progressive Intellectual and Neurologic Deterioration (PIND)

by Hilde A. G. Warmerdam, Elise A. Termeulen-Ferreira, Laura A. Tseng, Jessica Y. Lee, Agnies M. van Eeghen, Agnies M. van Eeghen, Carlos R. Ferreira, Clara D. M. van Karnebeek, Clara D. M. van Karnebeek
Published 2020-02-01

Metabolic Evaluation of Epilepsy: A Diagnostic Algorithm With Focus on Treatable Conditions

by Clara D. M. van Karnebeek, Clara D. M. van Karnebeek, Clara D. M. van Karnebeek, Bryan Sayson, Jessica J. Y. Lee, Laura A. Tseng, Nenad Blau, Nenad Blau, Gabriella A. Horvath, Carlos R. Ferreira, Carlos R. Ferreira
Published 2018-12-01