Associated Papers
Loss-of-function SLC25A20 variant causes carnitine-acylcarnitine translocase deficiency by reducing SLC25A20 protein stability.
Gan Z et al.
Gene, 2025
Trio-whole exome sequencing reveals the importance of de novo variants in children with intellectual disability and developmental delay.
Li C et al.
Scientific Reports, 2024
Increased acylcarnitine ratio indices in newborn screening for carnitine-acylcarnitine translocase deficiency shows increased sensitivity and reduced false-positivity.
Shi C et al.
Translational Pediatrics, 2023
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