Associated Papers
Whole exome sequencing in pediatric hyperammonemia: significant diagnostic yield and identification of three novel variants.
Hajati R et al.
Bmc Medical Genomics, 2025
A Novel Mutation in the OXCT1 Gene Causing Succinyl-CoA:3-Ketoacid CoA Transferase (SCOT) Deficiency Starting with Neurologic Manifestations.
Amirkashani D et al.
Iranian Journal of Child Neurology, 2023
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