Huang X et al.
Plos One, 2025
Nava E et al.
Neuropediatrics, 2022
Zhang C et al.
Clinical Neurology and Neurosurgery, 2019
Renaud M et al.
Journal of Neurology, 2016
Ebberink MS et al.
Human Mutation, 2011
Steinberg SJ et al.
Journal of Inherited Metabolic Disease, 2009