Publications

van Hasselt PM et al. Monocarboxylate transporter 1 deficiency and ketone utilization. N Engl J Med. 2014;371(20):1900-7. PMID: 25390740.

Balasubramaniam S et al. Heterozygous Monocarboxylate Transporter 1 (MCT1, SLC16A1) Deficiency as a Cause of Recurrent Ketoacidosis. JIMD Rep. 2016;29:33-38. PMID: 26608392.

Dweikat I et al. Genotype and Clinical Phenotype of Monocarboxylate Transporter 1 Deficiency in Three Palestinian Children: Report of Two Novel Variants in the SLC16A1 Gene.Am J Med Genet A. 2025;197(10):e64135. PMID: 40464101.