1. Carnitine palmitoyltransferase 2 gene polymorphism is a genetic risk factor for sudden unexpected death in infancy
2. Sigauke, E., et al. (2003) Carnitine Palmitoyltransferase II Deficiency: A Clinical, Biochemical, and Molecular Review. Laboratory Investigation, 83, 1543-1554. https://www.nature.com/articles/3780745
3. Test (2019) Carnitin-Palmitoyl Transferase Type 2 Deficiency: A Rare Cause of Acute Renal Failure Due to Rhabdomyolysi. https://giornaleitalianodinefrologia.it/en/2019/03/deficit-di-carnitin-palmitoil-transferasi-di-tipo-2-una-rara-causa-di-insufficienza-renale-acuta-da-rabdomiolisi/
4. First Japanese Case of Carnitine Palmitoyltransferase II Deficiency with the Homozygous Point Mutation S113L
5. Fanin, M., Anichini, A., Cassandrini, D., Fiorillo, C., Scapolan, S., Minetti, C., Cassanello, M., Donati, M.A., Siciliano, G., D’Amico, A., Lilliu, F., Bruno, C. and Angelini C. (2012) Allelic and Phenotypic Heterogeneity in 49 Italian Patients with the Muscle Form of CPT-II Deficiency. Clinical Genetics, 82, 232-239.https://pubmed.ncbi.nlm.nih.gov/21913903-allelic-and-phenotypic-heterogeneity-in-49-italian-patients-with-the-muscle-form-of-cpt-ii-deficiency/