Recurrent rhabdomyolysis caused by carnitine palmitoyltransferase II deficiency, common but under-recognised: Lessons to be learnt
Author:
Publisher
Elsevier BV
Subject
Endocrinology,Genetics,Molecular Biology
Reference6 articles.
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2. Disorders of carnitine transport and the carnitine cycle;Longo;Am. J. Med. Genet. C: Semin. Med. Genet.,2006
3. Mutation and biochemical analysis in carnitine palmitoyltransferase type II (CPT II) deficiency;Olpin;J. Inherit. Metab. Dis.,2003
4. The investigation and management of metabolic myopathies;Olpin;J. Clin. Pathol.,2015
5. Identification of a common mutation in the carnitine palmitoyltransferase II gene in familial recurrent myoglobinuria patients;Taroni;Nat. Genet.,1993
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1. From recurrent rhabdomyolysis in a young adult to carnitine palmitoyltransferase II deficiency;Archive of Clinical Cases;2023-03-14
2. Genetic cause of heterogeneous inherited myopathies in a cohort of Greek patients;Molecular Genetics and Metabolism Reports;2020-12
3. Update Review about Metabolic Myopathies;Life;2020-04-17
4. SEVERE RHABDOMYOLYSIS IN HOMOZYGOTE CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY;EXCLI J;2020
5. Statin use in carnitine palmitoyltransferase II deficiency;Journal of Clinical Lipidology;2019-07
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