A novel pathogenic variant in the carnitine transporter gene, SLC22A5, in association with metabolic carnitine deficiency and cardiomyopathy features.
BMC Cardiovasc Disord
; 24(1): 1, 2024 01 02.
Article
in En
| MEDLINE
| ID: mdl-38166572
Key words
Full text:
1
Database:
MEDLINE
Main subject:
Cardiomyopathy, Hypertrophic
/
Hyperammonemia
/
Muscular Diseases
/
Cardiomyopathies
Type of study:
Diagnostic_studies
/
Prognostic_studies
/
Risk_factors_studies
/
Screening_studies
Limits:
Child
/
Humans
/
Male
Country/Region as subject:
Asia
Language:
En
Journal:
BMC Cardiovasc Disord
Journal subject:
ANGIOLOGIA
/
CARDIOLOGIA
Year:
2024
Type:
Article
Affiliation country:
Iran