Associated Papers
Successful Management by Selective Embryo in the Carnitine-acylcarnitine Translocase Deficiency with SLC25A20 C.199-10T>G Variation: The First Case Report from Vietnam and Literature Review.
Trinh NB et al.
Oman Medical Journal, 2025
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
Whole exome sequencing analysis in a couple with three children who died prematurely due to carnitine-acylcarnitine translocase deficiency.
Tran VK et al.
Taiwanese Journal of Obstetrics & Gynecology, 2022
Newborn Screening for Mitochondrial Carnitine-Acylcarnitine Cycle Disorders in Zhejiang Province, China.
Zhou D et al.
Frontiers in Genetics, 2022
One potential hotspot SLC25A20 gene variants in Chinese patients with carnitine-acylcarnitine translocase deficiency.
Li X et al.
Frontiers in Pediatrics, 2022
Clinical and molecular characteristics of carnitineacylcarnitine translocase deficiency with c.270delC and a novel c.408C>A variant.
Gürbüz BB et al.
The Turkish Journal of Pediatrics, 2021
Understanding the role of OXPHOS dysfunction in the pathogenesis of ECHS1 deficiency.
Burgin HJ et al.
Febs Letters, 2020
Measurement of genetic diseases as a cause of mortality in infants receiving whole genome sequencing.
Kingsmore SF et al.
Npj Genomic Medicine, 2020
Clinical and molecular characteristics of carnitine-acylcarnitine translocase deficiency: Experience with six patients in Guangdong China.
Tang C et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2019
Carnitine-acylcarnitine translocase deficiency with c.199-10 T>G and novel c.1A>G mutation: Two case reports and brief literature review.
Yan HM et al.
Medicine, 2017
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