Associated Papers
One potential hotspot SLC25A20 gene variants in Chinese patients with carnitine-acylcarnitine translocase deficiency.
Li X et al.
Frontiers in Pediatrics, 2022
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
Molecular and functional analysis of SLC25A20 mutations causing carnitine-acylcarnitine translocase deficiency.
Iacobazzi V et al.
Human Mutation, 2004
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