Associated Papers
Molecular characterization, clinical phenotype, and neurological outcome of twelve Palestinian children with beta-ketothiolase deficiency: report of two novel variants in the ACAT1 gene.
Dweikat IM et al.
Bmc Medical Genomics, 2025
Characterization and outcome of 41 patients with beta-ketothiolase deficiency: 10 years' experience of a medical center in northern Vietnam.
Nguyen KN et al.
Journal of Inherited Metabolic Disease, 2017
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