Carnitine-Acylcarnitine Translocase Deficiency Latest Advances
Find the Latest Research About Carnitine-Acylcarnitine Translocase Deficiency
Last Updated: 06/30/2026
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Found 83 publications
A case of neonatal fatty acid oxidation disorder
Journal: Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics
Published: June 17, 2026
Post-mortem diagnosis of CACT deficiency with a novel SLC25A20 variant.
Journal: Human genome variation
Published: April 27, 2026
Carglumic acid as a treatment for persistent hyperammonemia in carnitine-acylcarnitine translocase deficiency: A case study.
Journal: Molecular genetics and metabolism reports
Published: November 27, 2024
Palmitoyl-carnitine Regulates Lung Development by Promoting Pulmonary Mesenchyme Proliferation.
Journal: Research (Washington, D.C.)
Published: October 07, 2024
Homozygous slc25a20 zebrafish mutant reveals insights into carnitine-acylcarnitine translocase deficiency pathogenesis.
Journal: Molecular genetics and metabolism reports
Published: June 28, 2024
Clinical and genetic analysis of two pedigrees affected with Carnitine-acylcarnitine translocase deficiency due to variant of SLC25A20 gene
Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Published: April 02, 2024
Carnitine-acylcarnitine translocase deficiency: a case report with autopsy.
Journal: Autopsy & case reports
Published: January 31, 2024
Sudden death with cardiac involvement in a neonate with carnitine-acylcarnitine translocase deficiency.
Journal: Cardiovascular pathology : the official journal of the Society for Cardiovascular Pathology
Published: January 17, 2024
The significance of acylcarnitine ratio indices in diagnosing carnitine-acylcarnitine translocase deficiency.
Journal: Translational pediatrics
Published: July 27, 2023
Acylcarnitine ratio indices in diagnosing carnitine-acylcarnitine translocase deficiency in newborns.
Journal: Translational pediatrics
Published: July 04, 2023
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.
Journal: Oman medical journal
Published: June 15, 2023
Last Updated: 06/30/2026