À propos de cet article

Citez

1. Almannai M, Alfadhel M, El-Hattab AW. Carnitine inborn errors of metabolism. Molecules. 2019 Sep 6; 24(18): 3251.10.3390/molecules24183251676690031500110 Search in Google Scholar

2. Joshi PR, Zierz S. Muscle carnitinepalmitoyltransferase II (CPT II) deficiency: A conceptual approach. Molecules. 2020 Apr 13; 25(8): 1784.10.3390/molecules25081784722188532295037 Search in Google Scholar

3. Ivin N, Torre VD, Sanders F, Youngman M. Rhabdomyolysis caused by carnitinepalmitoyltransferase 2 deficiency: A case report and systematic review of the literature. J Intensive Care Soc. 2020 May; 21(2): 165–173.10.1177/1751143719889766723847632489413 Search in Google Scholar

4. Sigauke E, Rakheja D, Kitson K, Bennett MJ. Carnitine palmitoyltransferase II deficiency: a clinical, biochemical, and molecular review. Lab Invest. 2003 Nov; 83(11): 1543–1554.10.1097/01.LAB.0000098428.51765.83 Search in Google Scholar

5. Wongkittichote P, Watson J, Leonard J, Toolan E, Dickson P, Grange D. Fatal COVID-19 infection in a patient with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: A case report. JIMD Reports. 2020; 56(1): 40-45.10.1002/jmd2.12165765324233204595 Search in Google Scholar

6. Tan A, Stepien KM, Narayana STK. Carnitine palmitoyltransferase II deficiency and post-COVID vaccination rhabdomyolysis. QJM. 2021 Nov 5; 114(8): 596–597.10.1093/qjmed/hcab077808320033871650 Search in Google Scholar

7. Angelini C. CarnitinePalmitoyltransferase II Deficiency. In: Genetic Neuromuscular Disorders. Springer, Cham. 2014. p. 285–288.10.1007/978-3-319-07500-6_64 Search in Google Scholar

8. Avila-Smirnow D, Boutron A, Beytía-Reyes MLÁ, et al. Carnitine palmitoyltransferase type 2 deficiency: novel mutation in a Native South American family with whole-body muscle magnetic resonance imaging findings: two case reports. J Med Case Rep. 2018; 12(1): 249.10.1186/s13256-018-1702-3611214630149802 Search in Google Scholar

9. Joshi PR, Deschauer M, Zierz S. Phenotype of carnitinepalmitoyltransferase II (CPT II) deficiency: A questionnaire-based survey. Journal of Clinical Neuroscience. 2019; 59: 32–36.10.1016/j.jocn.2018.11.02330455135 Search in Google Scholar

10. Deschauer M, Wieser T, Zierz S. Muscle carnitinepalmitoyltransferase II deficiency: clinical and molecular genetic features and diagnostic aspects. Arch Neurol. 2005; 62: 37–41.10.1001/archneur.62.1.3715642848 Search in Google Scholar

11. Martín MA, Rubio JC, Buchbinder J, Fernández-Hojas R, del Hoyo P, Teijeira S, et al. Molecular heterogeneity of myophosphorylase deficiency (McArdle’s disease): a genotype-pheno-type correlation study. Ann Neurol. 2001 Nov; 50(5): 574-581.10.1002/ana.1225 Search in Google Scholar

12. Blanc PL, Carrier H, Thomas L, Chavaillon JM, Robert D. Acute rhabdomyolysis with carnitine-palmitoyl-transferase deficiency. Intensive Care Med. 1982; 8(6): 307.10.1007/BF017167467175018 Search in Google Scholar

13. Gjorgjievski N, Dzekova-Vidimliski P, Petronijevic Z, Selim G, Dejanov P, Tozija L, et al. CarnitinePalmitoyltransferase II Deficiency (CPT II) Followed By Rhabdomyolysis and Acute Kidney Injury. Open Access Maced J Med Sci. 2018 Apr 12; 6(4): 666–668.10.3889/oamjms.2018.158592750029731937 Search in Google Scholar

14. Vavlukis M, Eftimov A, Zafirovska P, Caparovska E, Pocesta B, Kedev S, et al. Rhabdomyolysis and Cardiomyopathy in a 20-Year-Old Patient with CPT II Deficiency. Case Rep Genet. 2014; 2014: 496410.10.1155/2014/496410391584024563797 Search in Google Scholar

15. Kaneoka H, Uesugi N, Moriguchi A, Hirose S, Takayanagi M, Yamaguchi S, et al. Carnitinepalmitoyltransferase II deficiency due to a novel gene variant in a patient with rhabdomyolysis and ARF. Am J Kidney Dis 2005; 45: 596–602.10.1053/j.ajkd.2004.12.00615754283 Search in Google Scholar

16. Olpin SE, Afifi A, Clark S, Manning NJ, Bonham JR, Dalton A, et al. Mutation and biochemical analysis in carnitinepalmitoyltransferase type II (CPT II) deficiency. J Inherit Metab Dis. 2002; 25(1): 78. Search in Google Scholar

17. Meegada S, Muppidi V, Wilkinson DC 3rd, Siddamreddy S, Katta SK. Coronavirus Disease 2019-Induced Rhabdomyolysis. Cureus. 2020 Aug 29; 12(8): e10123.10.7759/cureus.10123745662932879836 Search in Google Scholar

18. Murillo F, Ramos G, Del Pozo JL, Valdez LM, Zagaceta J. SARS-CoV-2 Infection with Associated Rhabdomyolysis and Probable Myocarditis. Eur J Case Rep Intern Med. 2020 Aug 19; 7(9): 001867. Search in Google Scholar

19. Schnedl WJ, Schenk M, Enko D, Mangge H. Severe rhabdomyolysis in homozygote carnitinepalmitoyltransferase II deficiency. EXCLI J. 2020 Sep 11; 19: 1309–1313. Search in Google Scholar

20. Ørngreen MC, Ejstrup R, Vissing J. Effect of diet on exercise tolerance in carnitinepalmitoyltransferase II deficiency. Neurology. 2003 Aug 26;61(4): 559–61.10.1212/01.WNL.0000078195.05396.2012939440 Search in Google Scholar

eISSN:
1857-8985
Langue:
Anglais