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Mohanad Yaser Assem

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Case report Open access Aug 2026

Monocarboxylate transporter 1 deficiency: a rare case report and systematic review of genetically confirmed cases

The case of a 5-year-old Egyptian boy with recurrent episodes of ketoacidosis and neurological symptoms, who was confirmed by whole-exome sequencing to have homozygous SLC16A1 pathogenic variants, highlights the diagnostic and therapeutic challenges of MCT1 deficiency.

Y. M. Khalifa, Mohanad Yaser Assem, Ziad Fathi Ahmed et al. · 0 citations

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