Associated Papers
Homozygous slc25a20 zebrafish mutant reveals insights into carnitine-acylcarnitine translocase deficiency pathogenesis.
Hishida R et al.
Molecular Genetics and Metabolism Reports, 2024
Carnitine-acylcarnitine translocase deficiency: experience with four cases in Spain and review of the literature.
Vitoria I et al.
Jimd Reports, 2015
A novel SLC25A20 splicing mutation in patients of different ethnic origin with neonatally lethal carnitine-acylcarnitine translocase (CACT) deficiency.
Korman SH et al.
Molecular Genetics and Metabolism, 2006
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