Primary Carnitine Deficiency Latest Advances

Carnitine deficiency alters fuel metabolism and voluntary wheel running in mice.

Journal: bioRxiv : the preprint server for biology

Published: April 10, 2026

MassARRAY-based targeted detection of SLC22A5 mutations: A feasibility study for secondary screening of primary carnitine deficiency in newborns.

Journal: Clinica chimica acta; international journal of clinical chemistry

Published: August 15, 2025

Structural basis of sodium ion-dependent carnitine transport by OCTN2.

Journal: Nature communications

Published: August 05, 2025

Risk factors for carnitine deficiency in critically ill adults: A descriptive cross-sectional study.

Journal: JPEN. Journal of parenteral and enteral nutrition

Published: August 04, 2025

Analysis of genetic mutation distribution and metabolic characteristics in patients with primary carnitine deficiency from the Ganzhou area, China.

Journal: Clinica chimica acta; international journal of clinical chemistry

Published: July 15, 2025

Carnitine Deficiency in Chronic Kidney Disease: Pathophysiology, Clinical Implications, and Therapeutic Perspectives.

Journal: Nutrients

Published: June 02, 2025

Carnitine deficiency augments methotrexate-mediated acute renal injury in rats.

Journal: Journal of the Egyptian National Cancer Institute

Published: May 14, 2025

Carnitine deficiency alters fuel metabolism and voluntary wheel running in mice.

Journal: Journal of lipid research

Published: April 23, 2025

Primary systemic carnitine deficiency: Phenotypic variability, diagnostic challenges, and long-term outcomes.

Journal: Pediatrics international : official journal of the Japan Pediatric Society

Published: April 21, 2025

Newborn screening for fatty acid oxidation disorders: epidemiological and genetic findings in Southeastern China.

Journal: BMC pediatrics

Published: January 21, 2025

The global prevalence and genetic spectrum of primary carnitine deficiency.

Journal: BMC genomic data

Published: December 21, 2024

Preimplantation genetic testing for a Chinese pedigree affected with Primary carnitine deficiency

Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics

Published: December 09, 2024

Primary Carnitine Deficiency Latest Advances

Find the Latest Research About Primary Carnitine Deficiency

Carnitine deficiency alters fuel metabolism and voluntary wheel running in mice.

Carnitine deficiency alters fuel metabolism and voluntary wheel running in mice.

MassARRAY-based targeted detection of SLC22A5 mutations: A feasibility study for secondary screening of primary carnitine deficiency in newborns.

MassARRAY-based targeted detection of SLC22A5 mutations: A feasibility study for secondary screening of primary carnitine deficiency in newborns.

Structural basis of sodium ion-dependent carnitine transport by OCTN2.

Structural basis of sodium ion-dependent carnitine transport by OCTN2.

Risk factors for carnitine deficiency in critically ill adults: A descriptive cross-sectional study.

Risk factors for carnitine deficiency in critically ill adults: A descriptive cross-sectional study.

Analysis of genetic mutation distribution and metabolic characteristics in patients with primary carnitine deficiency from the Ganzhou area, China.

Analysis of genetic mutation distribution and metabolic characteristics in patients with primary carnitine deficiency from the Ganzhou area, China.

Carnitine Deficiency in Chronic Kidney Disease: Pathophysiology, Clinical Implications, and Therapeutic Perspectives.

Carnitine Deficiency in Chronic Kidney Disease: Pathophysiology, Clinical Implications, and Therapeutic Perspectives.

Carnitine deficiency augments methotrexate-mediated acute renal injury in rats.

Carnitine deficiency augments methotrexate-mediated acute renal injury in rats.

Carnitine deficiency alters fuel metabolism and voluntary wheel running in mice.

Carnitine deficiency alters fuel metabolism and voluntary wheel running in mice.

Primary systemic carnitine deficiency: Phenotypic variability, diagnostic challenges, and long-term outcomes.

Primary systemic carnitine deficiency: Phenotypic variability, diagnostic challenges, and long-term outcomes.

Newborn screening for fatty acid oxidation disorders: epidemiological and genetic findings in Southeastern China.

Newborn screening for fatty acid oxidation disorders: epidemiological and genetic findings in Southeastern China.

The global prevalence and genetic spectrum of primary carnitine deficiency.

The global prevalence and genetic spectrum of primary carnitine deficiency.

Preimplantation genetic testing for a Chinese pedigree affected with Primary carnitine deficiency

Preimplantation genetic testing for a Chinese pedigree affected with Primary carnitine deficiency