Schwahn BC et al.
Journal of Inherited Metabolic Disease, 2024
Ferreira EA et al.
Genetics in Medicine Open, 2024
Spiegel R et al.
Journal of Inherited Metabolic Disease, 2022
Yoshimura A et al.
Neuropediatrics, 2019
Lubout CMA et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2018