Clinical phenotype, genotype, and neurological outcome of twelve Palestinian children with Beta-ketothiolase deficiency: Report of two novel variants in the ACAT1 gene
This is a retrospective analysis of 12 patients ( 6 females and 6 males) with T2 deficiency diagnosed between 1 month and 22 months of age, based on the clinical phenotype, urine organic acid analysis, and molecular genetic analysis.