Carnitine Palmitoyltransferase 1 Deficiency Latest Advances

Correspondence to the editorial "ASB3 degrades the gateway to β-oxidation: on Hepatocytic ASB3 deficiency alleviates MASLD by decreasing ubiquitin-mediated CPT1A".

Journal: Clinical and molecular hepatology

Published: September 25, 2025

The role of carnitine palmitoyl transferase 2 in the progression of salt-sensitive hypertension.

Journal: American journal of physiology. Cell physiology

Published: September 02, 2025

The acylcarnitine profile in patients with PKAN may mimic CPT1 deficiency.

Journal: Molecular genetics and metabolism

Published: August 25, 2025

Pitfalls in the diagnosis of carnitine palmitoyltransferase 1 deficiency.

Journal: Journal of pediatric endocrinology & metabolism : JPEM

Published: July 10, 2025

Migratory and intermittent polyarthritis as an atypical presentation of carnitine palmitoyltransferase II deficiency with positive response to treatment with Interleukin-1 receptor antagonist: a case presentation and case-based review.

Journal: Rheumatology international

Published: April 18, 2025

An Initial Diagnosis of the Myopathic Form of Carnitine Palmitoyl Transferase Type II Deficiency Made in a 65-year-Old.

Journal: Journal of clinical neuromuscular disease

Published: November 26, 2024

Hepatocytic ankyrin repeat and SOCS box protein 3 deficiency alleviates metabolic dysfunction-associated steatotic liver disease by decreasing ubiquitin-mediated carnitine palmitoyl transferase 1A.

Journal: Clinical and molecular hepatology

Published: November 25, 2024

The first case of a competitive basketball player affected by carnitine palmitoyl transferase II deficiency presenting an undescribed compound heterozygous genetic mutation.

Journal: European journal of applied physiology

Published: October 02, 2024

Circulatory response to exercise relative to oxygen uptake assessed in the follow-up of patients with fatty acid beta-oxidation disorders.

Journal: Journal of inherited metabolic disease

Published: August 05, 2024

Mitochondrial fatty acid oxidation dysfunction impairs autophagic flux through ATP deficiency-caused lysosomal pH abnormity.

Journal: The Journal of nutritional biochemistry

Published: August 05, 2024

A rare cause of acute kidney injury due to recurrent rhabdomyolysis: Carnitine palmitoyltransferase 2 deficiency.

Journal: Hemodialysis international. International Symposium on Home Hemodialysis

Published: July 04, 2024

10-Hydroxy-2-decenoic acid attenuates nonalcoholic fatty liver disease by activating AMPK-α signaling pathway.

Journal: Biochemical pharmacology

Published: June 23, 2024

Carnitine Palmitoyltransferase 1 Deficiency Latest Advances

Find the Latest Research About Carnitine Palmitoyltransferase 1 Deficiency

Correspondence to the editorial "ASB3 degrades the gateway to β-oxidation: on Hepatocytic ASB3 deficiency alleviates MASLD by decreasing ubiquitin-mediated CPT1A".

Correspondence to the editorial "ASB3 degrades the gateway to β-oxidation: on Hepatocytic ASB3 deficiency alleviates MASLD by decreasing ubiquitin-mediated CPT1A".

The role of carnitine palmitoyl transferase 2 in the progression of salt-sensitive hypertension.

The role of carnitine palmitoyl transferase 2 in the progression of salt-sensitive hypertension.

The acylcarnitine profile in patients with PKAN may mimic CPT1 deficiency.

The acylcarnitine profile in patients with PKAN may mimic CPT1 deficiency.

Pitfalls in the diagnosis of carnitine palmitoyltransferase 1 deficiency.

Pitfalls in the diagnosis of carnitine palmitoyltransferase 1 deficiency.

Migratory and intermittent polyarthritis as an atypical presentation of carnitine palmitoyltransferase II deficiency with positive response to treatment with Interleukin-1 receptor antagonist: a case presentation and case-based review.

Migratory and intermittent polyarthritis as an atypical presentation of carnitine palmitoyltransferase II deficiency with positive response to treatment with Interleukin-1 receptor antagonist: a case presentation and case-based review.

An Initial Diagnosis of the Myopathic Form of Carnitine Palmitoyl Transferase Type II Deficiency Made in a 65-year-Old.

An Initial Diagnosis of the Myopathic Form of Carnitine Palmitoyl Transferase Type II Deficiency Made in a 65-year-Old.

Hepatocytic ankyrin repeat and SOCS box protein 3 deficiency alleviates metabolic dysfunction-associated steatotic liver disease by decreasing ubiquitin-mediated carnitine palmitoyl transferase 1A.

Hepatocytic ankyrin repeat and SOCS box protein 3 deficiency alleviates metabolic dysfunction-associated steatotic liver disease by decreasing ubiquitin-mediated carnitine palmitoyl transferase 1A.

The first case of a competitive basketball player affected by carnitine palmitoyl transferase II deficiency presenting an undescribed compound heterozygous genetic mutation.

The first case of a competitive basketball player affected by carnitine palmitoyl transferase II deficiency presenting an undescribed compound heterozygous genetic mutation.

Circulatory response to exercise relative to oxygen uptake assessed in the follow-up of patients with fatty acid beta-oxidation disorders.

Circulatory response to exercise relative to oxygen uptake assessed in the follow-up of patients with fatty acid beta-oxidation disorders.

Mitochondrial fatty acid oxidation dysfunction impairs autophagic flux through ATP deficiency-caused lysosomal pH abnormity.

Mitochondrial fatty acid oxidation dysfunction impairs autophagic flux through ATP deficiency-caused lysosomal pH abnormity.

A rare cause of acute kidney injury due to recurrent rhabdomyolysis: Carnitine palmitoyltransferase 2 deficiency.

A rare cause of acute kidney injury due to recurrent rhabdomyolysis: Carnitine palmitoyltransferase 2 deficiency.

10-Hydroxy-2-decenoic acid attenuates nonalcoholic fatty liver disease by activating AMPK-α signaling pathway.

10-Hydroxy-2-decenoic acid attenuates nonalcoholic fatty liver disease by activating AMPK-α signaling pathway.