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2025-07-01

Molecular characterization, clinical phenotype, and neurological outcome of twelve Palestinian children with beta-ketothiolase deficiency: report of two novel variants in the ACAT1 gene

2025-06-04

Genotype and Clinical Phenotype of Monocarboxylate Transporter 1 Deficiency in Three Palestinian Children: Report of Two Novel Variants in the SLC16A1 Gene

Genotype and Clinical Phenotype of Monocarboxylate Transporter 1 Deficiency in Three Palestinian Children: Report of Two Novel Variants in the SLC16A1 Gene