A novel pathogenic variant in the carnitine transporter gene, SLC22A5, in association with metabolic carnitine deficiency and cardiomyopathy features.
Journal Information
Full Title: BMC Cardiovasc Disord
Abbreviation: BMC Cardiovasc Disord
Country: Unknown
Publisher: Unknown
Language: N/A
Publication Details
Subject Category: Vascular Diseases
Available in Europe PMC: Yes
Available in PMC: Yes
PDF Available: No
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"Declarations Consent for publicationNot applicable. Ethics approval and consent to participateThe study complies with the Declaration of Helsinki. Ethical approval was obtained from the Ethics Committees of Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences, Tehran, Iran (IR.RHC.REC.1400.005). Informed consent must have been obtained from a parent and/or legal guardian. Competing interestsThe authors declare no competing interests. Competing interests The authors declare no competing interests."
"Funding The authors received no specific funding for this research."
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Last Updated: Aug 05, 2025