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Answering the following questions can help lead you to the information most relevant for your patient.
References:
1. Carvalho DR et al. Pediatr Neurol. 2012;46:369-374. 2. Diez-Fernandez C et al. Hum Mutat. 2018;39:1029-1050. 3. Edwards RL et al. J Inherit Metab Dis. 2009;32:S197-S200.