Metabolic Myopathies and HyperCKemia in Adulthood: A Clinical Approach to Diagnosis and Management.

[Carnitine palmitoyltransferase II deficiency: Impaired fatty acid oxidation].

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.

Severe rhabdomyolysis in an infant due to fatty acid oxidation disorder: a case report.

Battling Recurrent Rhabdomyolysis in Carnitine Palmitoyltransferase II Deficiency.

Recurrent rhabdomyolysis caused by palmitoyltransferase II (CPT-2) deficiency but complete normal acylcarnitine profile: A patient presentation and review of the literature.

Diagnostic Challenges in the Myopathic Variant of Carnitine Palmitoyltransferase II Deficiency: A Case Report.

Thiopentone-based total intravenous anaesthesia for a patient with carnitine palmitoyltransferase II deficiency and malignant hyperthermia susceptibility.

Expanded Newborn Screening for Inborn Errors of Metabolism in Hong Kong: Results and Outcome of a 7 Year Journey.

Myopathy due to carnitine palmitoyltransferase II deficiency: updating genetic aspects of the first publication in Brazil.

Low C0 and normal C16 and C18:1 masking the diagnosis of carnitine palmitoyltransferase II deficiency including a novel CPT2 variant: A case report.

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.

Experience with carnitine palmitoyltransferase II deficiency: diagnostic challenges in the myopathic form.

Does SARS-Cov-2 Trigger Rhabdomyolysis in Carnitine-Palmitoyltransferase-II Deficiency?

Adult-onset carnitine palmitoyl transferase II (CPT II) deficiency presenting with rhabdomyolysis and acute kidney injury.

From recurrent rhabdomyolysis in a young adult to carnitine palmitoyltransferase II deficiency.

Do renal and cardiac malformations in the fetus signal carnitine palmitoyltransferase II deficiency? A rare lethal fatty acid oxidation defect.

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.

Rhabdomyolysis Associated with Recent SARS-COV-2 Infection in a Patient with Carnitine Palmitoyltransferase II Deficiency.

A Case of Carnitine Palmitoyltransferase II Deficiency in Bahrain With a Novel Mutation.

Hypercholesterolaemia treatment in a patient with family hypercholesterolaemia and myopathy due to carnitine palmitoyltransferase II deficiency with PCSK9 inhibitors.

Detection of Early Onset Carnitine Palmitoyltransferase II Deficiency by Newborn Screening: Should CPT II Deficiency Be a Primary Disease Target?

Clinical Reasoning: A 2-Day-Old Boy With Sudden Cardiac Arrest and Encephalopathy.

Carnitine palmitoyltransferase-II deficiency: case presentation and review of the literature.

Hypercholesterolemia treatment in a patient with family hypercholesterolemia and myopathy due to carnitine palmitoyltransferase II deficiency with PCSK9 inhibitors.

Cause of recurrent rhabdomyolysis, carnitine palmitoyltransferase II deficiency and novel pathogenic mutation.

Carnitine palmitoyltransferase II deficiency and post-COVID vaccination rhabdomyolysis.

Schizophrenic Psychosis Symptoms in a Background of Mild-To-Moderate Carnitine Palmitoyltransferase II Deficiency: A Case Report.

Severe rhabdomyolysis in homozygote carnitine palmitoyltransferase II deficiency.

Need for strict clinical management of patients with carnitine palmitoyltransferase II deficiency: Experience with two cases detected by expanded newborn screening.

Subclinical effects of long-chain fatty acid β-oxidation deficiency on the adult heart: A case-control magnetic resonance study.

Case 1: Lethal Pulmonary Hemorrhage in a 3-day-old Term Infant.

[Tandem mass spectrometry analysis and genetic diagnosis of neonates with fatty acid oxidation disorders in central and northern regions of Guangxi].

Carnitine palmitoyltransferase II deficiency in a prenatal case with polycystic kidney disease-like phenotype.

Recurrent Myalgia since Early Infancy-Misleading Clinical Course in a Child with Carnitine Palmitoyltransferase-II Deficiency.

Statin use in carnitine palmitoyltransferase II deficiency.

Unrecognized High Occurrence of Genetically Confirmed Hereditary Carnitine Palmitoyltransferase II Deficiency in an Austrian Family Points to the Ongoing Underdiagnosis of the Disease.

Exome-Based Rare-Variant Analyses in CKD.

Normal FGF-21-Serum Levels in Patients with Carnitine Palmitoyltransferase II (CPT II) Deficiency.

Carnitine palmitoyltransferase II deficiency with a focus on newborn screening.

Rhabdomyolysis-Associated Acute Kidney Injury.

Recurrent rhabdomyolysis caused by carnitine palmitoyltransferase II deficiency, common but under-recognised: Lessons to be learnt.

Carnitine Palmitoyltransferase II Deficiency (CPT II) Followed By Rhabdomyolysis and Acute Kidney Injury.

Rhabdomyolysis with different etiologies in childhood.

Newborn screening for carnitine palmitoyltransferase II deficiency using (C16+C18:1)/C2: Evaluation of additional indices for adequate sensitivity and lower false-positivity.

A surviving 24-month-old patient with neonatal-onset carnitine palmitoyltransferase II deficiency.

A newborn case with carnitine palmitoyltransferase II deficiency initially judged as unaffected by acylcarnitine analysis soon after birth.

Disorders of fatty acid oxidation and autosomal recessive polycystic kidney disease-different clinical entities and comparable perinatal renal abnormalities.

Muscle Carnitine Palmitoyltransferase II Deficiency: A Review of Enzymatic Controversy and Clinical Features.

[CPT2 gene mutation analysis and prenatal diagnosis in a family with carnitine palmitoyltransferase II deficiency].

First Japanese Case of Carnitine Palmitoyltransferase II Deficiency with the Homozygous Point Mutation S113L.

Substrate kinetics in patients with disorders of skeletal muscle metabolism.

Missed Newborn Screening Case of Carnitine Palmitoyltransferase-II Deficiency.

Neonatal Carnitine Palmitoyltransferase II Deficiency: A Lethal Entity.

Metabolic autopsy with next generation sequencing in sudden unexpected death in infancy: Postmortem diagnosis of fatty acid oxidation disorders.

The role of mitochondria in statin-induced myopathy.