Carnitine-Acylcarnitine Translocase Deficiency Latest Advances

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

Loss-of-function SLC25A20 variant causes carnitine-acylcarnitine translocase deficiency by reducing SLC25A20 protein stability.

Journal: Gene

Published: September 08, 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

Carnitine-acylcarnitine translocase deficiency caused by SLC25A20 gene heterozygous variants in twins: a case report.

Journal: The Journal of international medical research

Published: April 28, 2023

Dataset from dried blood spot acylcarnitine for detection of Carnitine-Acylcarnitine Translocase (CACT) deficiency and Carnitine Palmitoyl Transferase 2 (CPT2) deficiency.

Journal: Data in brief

Published: February 22, 2023

Carnitine-Acylcarnitine Translocase Deficiency Latest Advances

Find the Latest Research About Carnitine-Acylcarnitine Translocase Deficiency

Carglumic acid as a treatment for persistent hyperammonemia in carnitine-acylcarnitine translocase deficiency: A case study.

Carglumic acid as a treatment for persistent hyperammonemia in carnitine-acylcarnitine translocase deficiency: A case study.

Palmitoyl-carnitine Regulates Lung Development by Promoting Pulmonary Mesenchyme Proliferation.

Palmitoyl-carnitine Regulates Lung Development by Promoting Pulmonary Mesenchyme Proliferation.

Loss-of-function SLC25A20 variant causes carnitine-acylcarnitine translocase deficiency by reducing SLC25A20 protein stability.

Loss-of-function SLC25A20 variant causes carnitine-acylcarnitine translocase deficiency by reducing SLC25A20 protein stability.

Homozygous slc25a20 zebrafish mutant reveals insights into carnitine-acylcarnitine translocase deficiency pathogenesis.

Homozygous slc25a20 zebrafish mutant reveals insights into carnitine-acylcarnitine translocase deficiency pathogenesis.

Clinical and genetic analysis of two pedigrees affected with Carnitine-acylcarnitine translocase deficiency due to variant of SLC25A20 gene

Clinical and genetic analysis of two pedigrees affected with Carnitine-acylcarnitine translocase deficiency due to variant of SLC25A20 gene

Carnitine-acylcarnitine translocase deficiency: a case report with autopsy.

Carnitine-acylcarnitine translocase deficiency: a case report with autopsy.

Sudden death with cardiac involvement in a neonate with carnitine-acylcarnitine translocase deficiency.

Sudden death with cardiac involvement in a neonate with carnitine-acylcarnitine translocase deficiency.

The significance of acylcarnitine ratio indices in diagnosing carnitine-acylcarnitine translocase deficiency.

The significance of acylcarnitine ratio indices in diagnosing carnitine-acylcarnitine translocase deficiency.

Acylcarnitine ratio indices in diagnosing carnitine-acylcarnitine translocase deficiency in newborns.

Acylcarnitine ratio indices in diagnosing carnitine-acylcarnitine translocase deficiency in newborns.

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.

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.

Carnitine-acylcarnitine translocase deficiency caused by SLC25A20 gene heterozygous variants in twins: a case report.

Carnitine-acylcarnitine translocase deficiency caused by SLC25A20 gene heterozygous variants in twins: a case report.

Dataset from dried blood spot acylcarnitine for detection of Carnitine-Acylcarnitine Translocase (CACT) deficiency and Carnitine Palmitoyl Transferase 2 (CPT2) deficiency.

Dataset from dried blood spot acylcarnitine for detection of Carnitine-Acylcarnitine Translocase (CACT) deficiency and Carnitine Palmitoyl Transferase 2 (CPT2) deficiency.