Phenotype of carnitine palmitoyltransferase II (CPT II) deficiency: A questionnaire-based survey
Author:
Publisher
Elsevier BV
Subject
Physiology (medical),Clinical Neurology,Neurology,General Medicine,Surgery
Reference16 articles.
1. Carnitine palmitoyltransferase deficiency;DiMauro,1986
2. Carnitine palmitoyltransferase deficiencies;Bonnefont;Mol Genet Metab,1999
3. Carnitine palmitoyltransferase II (CPT II) deficiency: genotype-phenotype analysis of 50 patients;Joshi;J Neurol Sci,2014
4. cDNA cloning, sequence analysis, and chromosomal localization of the gene for human carnitine palmitoyltransferase;Finocchiaro;Proc Natl Acad Sci U S A,1991
5. Infantile form of carnitine palmitoyltransferase II deficiency with hepatomuscular symptoms and sudden death. Physiopathological approach to carnitine palmitoyltransferase II deficiencies;Demaugre;J Clin Invest,1991
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1. Myopathic Carnitine Palmitoyltransferase II (CPT II) Deficiency: A Rare Cause of Acute Kidney Injury and Cardiomyopathy;Cureus;2023-10-06
2. Normal Thermostability of p.Ser113Leu and p.Arg631Cys Variants of Mitochondrial Carnitine Palmitoyltransferase II (CPT II) in Human Muscle Homogenate;Metabolites;2022-11-19
3. Rhabdomyolysis Associated with Recent SARS-COV-2 Infection in a Patient with Carnitine Palmitoyltransferase II Deficiency;PRILOZI;2022-11-01
4. Extreme Elevation of Creatine Kinase in a Young Male Patient With Recurrent Rhabdomyolysis;Cureus;2022-05-07
5. Exercise, Nutrition, and Supplements in the Muscle Carnitine Palmitoyl-Transferase II Deficiency: New Theoretical Bases for Potential Applications;Frontiers in Physiology;2021-08-02
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