Disease: Carnitine palmitoyltransferase II deficiency
- A Case of Carnitine Palmitoyltransferase II Deficiency in Bahrain With a Novel Mutation
- A rare presentation of Carnitine palmitoyltransferase II (CPT-2) deficiency with normal acylcarnitine profile in a 10-year-old boy with muscle weakness and bilateral hearing loss; a case report
- Adult-onset carnitine palmitoyl transferase II (CPT II) deficiency presenting with rhabdomyolysis and acute kidney injury
- Carnitine palmitoyltransferase II (CPT II) deficiency responsible for refractory cardiac arrhythmias, acute multiorgan failure and early fatal outcome
- Carnitine palmitoyltransferase-II deficiency: case presentation and review of the literature
- Clinical characteristics and genetic analysis of six children with carnitine palmitoyltransferase 2 deficiency
- Clinical Reasoning: A 2-Day-Old Boy With Sudden Cardiac Arrest and Encephalopathy
- CPT1C is required for synaptic plasticity and oscillatory activity that supports motor, associative and non-associative learning
- Dataset from dried blood spot acylcarnitine for detection of Carnitine-Acylcarnitine Translocase (CACT) deficiency and Carnitine Palmitoyl Transferase 2 (CPT2) deficiency
- Deciphering the pathogenesis of retinopathy associated with carnitine palmitoyltransferase I deficiency in zebrafish model
- Detection of Early Onset Carnitine Palmitoyltransferase II Deficiency by Newborn Screening: Should CPT II Deficiency Be a Primary Disease Target?
- Diagnostic Challenges in the Myopathic Variant of Carnitine Palmitoyltransferase II Deficiency: A Case Report
- Do renal and cardiac malformations in the fetus signal carnitine palmitoyltransferase II deficiency? A rare lethal fatty acid oxidation defect
- Does SARS-Cov-2 Trigger Rhabdomyolysis in Carnitine-Palmitoyltransferase-II Deficiency?
- Expanded Newborn Screening for Inborn Errors of Metabolism in Hong Kong: Results and Outcome of a 7 Year Journey
- Experience with carnitine palmitoyltransferase II deficiency: diagnostic challenges in the myopathic form
- From recurrent rhabdomyolysis in a young adult to carnitine palmitoyltransferase II deficiency
- Hypercholesterolaemia treatment in a patient with family hypercholesterolaemia and myopathy due to carnitine palmitoyltransferase II deficiency with PCSK9 inhibitors
- Impact of newborn screening for fatty acid oxidation disorders on neurological outcome: A Belgian retrospective and multicentric study
- Long-term prognosis of fatty-acid oxidation disorders in adults: Optimism despite the limited effective therapies available
- Low C0 and normal C16 and C18:1 masking the diagnosis of carnitine palmitoyltransferase II deficiency including a novel CPT2 variant: A case report
- miR204 potentially promotes non-alcoholic fatty liver disease by inhibition of cpt1a in mouse hepatocytes
- Mitochondrial carnitine palmitoyltransferase-II dysfunction: A possible novel mechanism for nonalcoholic fatty liver disease in hepatocarcinogenesis
- Myopathy due to carnitine palmitoyltransferase II deficiency: updating genetic aspects of the first publication in Brazil
- Neutrophil trafficking to the site of infection requires Cpt1a-dependent fatty acid β-oxidation
- Newborn Screening for Mitochondrial Carnitine-Acylcarnitine Cycle Disorders in Zhejiang Province, China
- Newborn Screening with (C16 + C18:1)/C2 and C14/C3 for Carnitine Palmitoyltransferase II Deficiency throughout Japan Has Revealed C12/C0 as an Index of Higher Sensitivity and Specificity
- No effect of resveratrol on fatty acid oxidation or exercise capacity in patients with fatty acid oxidation disorders: A randomized clinical cross-over trial
- Normal Thermostability of p.Ser113Leu and p.Arg631Cys Variants of Mitochondrial Carnitine Palmitoyltransferase II (CPT II) in Human Muscle Homogenate
- Novel mutations associated with carnitine-acylcarnitine translocase and carnitine palmitoyl transferase 2 deficiencies in Malaysia
- PARK7 deficiency inhibits fatty acid β-oxidation via PTEN to delay liver regeneration after hepatectomy
- Prolonged neuraxial block following spinal anaesthesia in a patient with carnitine palmitoyl transferase II deficiency undergoing caesarean section
- Rhabdomyolysis Associated with Recent <em>SARS-COV-2</em> Infection in a Patient with Carnitine Palmitoyltransferase II Deficiency
- Rhabdomyolysis Associated with Recent SARS-COV-2 Infection in a Patient with Carnitine Palmitoyltransferase II Deficiency
- Sarcopenia: investigation of metabolic changes and its associated mechanisms
- T cell metabolic reprogramming in acute kidney injury and protection by glutamine blockade
- Thiopentone-based total intravenous anaesthesia for a patient with carnitine palmitoyltransferase II deficiency and malignant hyperthermia susceptibility