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A novel pathogenic variant in the carnitine transporter gene, SLC22A5, in association with metabolic carnitine deficiency and cardiomyopathy features.
Jolfayi, Amir Ghaffari; Naderi, Niloofar; Ghasemi, Serwa; Salmanipour, Alireza; Adimi, Sara; Maleki, Majid; Kalayinia, Samira.
Affiliation
  • Jolfayi AG; Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences, Tehran, Iran.
  • Naderi N; Cardiogenetic Research Center, Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences, Tehran, Iran.
  • Ghasemi S; Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences, Tehran, Iran.
  • Salmanipour A; Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences, Tehran, Iran.
  • Adimi S; Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences, Tehran, Iran.
  • Maleki M; Cardiogenetic Research Center, Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences, Tehran, Iran.
  • Kalayinia S; Cardiogenetic Research Center, Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences, Tehran, Iran. samira.kalayi@yahoo.com.
BMC Cardiovasc Disord ; 24(1): 1, 2024 01 02.
Article in En | MEDLINE | ID: mdl-38166572
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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
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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