Carnitine Palmitoyltransferase 1 Deficiency Latest Advances

Find the Latest Research About Carnitine Palmitoyltransferase 1 Deficiency

Last Updated: 09/26/2026

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Found 260 publications

Philippine Clinical Practice Guidelines for Periodic Health Examination: Screening for Congenital and Developmental Disorders.

Philippine Clinical Practice Guidelines for Periodic Health Examination: Screening for Congenital and Developmental Disorders.

Journal: Acta medica Philippina

Published: July 01, 2026

Correspondence to editorial 2 on "Hepatocytic ankyrin repeat and SOCS box protein 3 deficiency alleviates metabolic dysfunction-associated steatotic liver disease by decreasing ubiquitin-mediated carnitine palmitoyl transferase 1A".

Correspondence to editorial 2 on "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: September 25, 2025

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

Correspondence to editorial 1 on "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: September 23, 2025

ASB3 degrades the gateway to β-oxidation: Editorial on "Hepatocytic ankyrin repeat and SOCS box protein 3 deficiency alleviates metabolic dysfunction-associated steatotic liver disease by decreasing ubiquitin-mediated carnitine palmitoyl transferase 1A".

ASB3 degrades the gateway to β-oxidation: Editorial on "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: September 09, 2025

A late diagnosis of CPT-2 deficiency

A late diagnosis of CPT-2 deficiency

Journal: La Revue de medecine interne

Published: September 08, 2025

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.

Journal: American journal of physiology. Cell physiology

Published: September 02, 2025

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

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

Journal: Molecular genetics and metabolism

Published: August 25, 2025

Constraint-based modelling of metabolic dysregulation in Gaucher disease: mitochondrial dysfunction and disrupted cholesterol homeostasis.

Constraint-based modelling of metabolic dysregulation in Gaucher disease: mitochondrial dysfunction and disrupted cholesterol homeostasis.

Journal: Orphanet journal of rare diseases

Published: July 18, 2025

Pitfalls in the diagnosis of carnitine palmitoyltransferase 1 deficiency.

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.

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.

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.

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

Showing 1-12 of 260

Last Updated: 09/26/2026