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

Transparency Score
3/6
50.0% Transparent
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Evidence found in paper:

"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."

Evidence found in paper:

"Funding The authors received no specific funding for this research."

Protocol Registration
Open Access
Paper is freely available to read
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Assessment Info

Tool: rtransparent

OST Version: N/A

Last Updated: Aug 05, 2025