A novel pathogenic variant in the carnitine transporter gene, SLC22A5, in association with metabolic carnitine deficiency and cardiomyopathy features
- Location
-
Deutsche Nationalbibliothek Frankfurt am Main
- Extent
-
1 Online-Ressource.
- Language
-
Englisch
- Bibliographic citation
-
A novel pathogenic variant in the carnitine transporter gene, SLC22A5, in association with metabolic carnitine deficiency and cardiomyopathy features ; volume:24 ; number:1 ; day:2 ; month:1 ; year:2024 ; pages:1-11 ; date:12.2024
BMC cardiovascular disorders ; 24, Heft 1 (2.1.2024), 1-11, 12.2024
- Creator
-
Jolfayi, Amir Ghaffari
Naderi, Niloofar
Ghasemi, Serwa
Salmanipour, Alireza
Adimi, Sara
Maleki, Majid
Kalayinia, Samira
- Contributor
-
SpringerLink (Online service)
- DOI
-
10.1186/s12872-023-03676-z
- URN
-
urn:nbn:de:101:1-2024031812003527484388
- Rights
-
Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Last update
-
14.08.2025, 10:58 AM CEST
Data provider
This object is provided by:
Deutsche Nationalbibliothek. If you have any questions about the object, please contact the data provider.
Deutsche Nationalbibliothek. If you have any questions about the object, please contact the data provider.
Associated
- Jolfayi, Amir Ghaffari
- Naderi, Niloofar
- Ghasemi, Serwa
- Salmanipour, Alireza
- Adimi, Sara
- Maleki, Majid
- Kalayinia, Samira
- SpringerLink (Online service)
Other Objects (12)
Characterization of Exosomal SLC22A5 (OCTN2) carnitine transporter
Carnitine today
Carnitine and cardiovascular diseases
Carnitine transporter OCTN2 and carnitine uptake in bovine kidney cells is regulated by peroxisome proliferator-activated receptor β/δ
Carnitine transporter OCTN2 and carnitine uptake in bovine kidney cells is regulated by peroxisome proliferator-activated receptor beta/delta
Identification and characterization of a carnitine transporter in Acinetobacter baumannii
Oligomeric structure of the carnitine transporter CaiT from Escherichia coli
Carnitine in valproate-induced hyperammonemia
Modeling primary carnitine deficiency-mediated dilated cardiomyopathy in engineered heart tissue format
Clinical aspects of human carnitine deficiency
Structural and Dynamic Assessment of Disease‐Causing Mutations for the Carnitine Transporter OCTN2
The effect of long term carnitine supplementation on carnitine status and metabolic pathways of mice during aging
Characterization of Exosomal SLC22A5 (OCTN2) carnitine transporter
Carnitine today
Carnitine and cardiovascular diseases
Carnitine transporter OCTN2 and carnitine uptake in bovine kidney cells is regulated by peroxisome proliferator-activated receptor β/δ
Carnitine transporter OCTN2 and carnitine uptake in bovine kidney cells is regulated by peroxisome proliferator-activated receptor beta/delta
Identification and characterization of a carnitine transporter in Acinetobacter baumannii
Oligomeric structure of the carnitine transporter CaiT from Escherichia coli
Carnitine in valproate-induced hyperammonemia
Modeling primary carnitine deficiency-mediated dilated cardiomyopathy in engineered heart tissue format
Clinical aspects of human carnitine deficiency
Structural and Dynamic Assessment of Disease‐Causing Mutations for the Carnitine Transporter OCTN2
The effect of long term carnitine supplementation on carnitine status and metabolic pathways of mice during aging
Characterization of Exosomal SLC22A5 (OCTN2) carnitine transporter
Carnitine today
Carnitine and cardiovascular diseases
Carnitine transporter OCTN2 and carnitine uptake in bovine kidney cells is regulated by peroxisome proliferator-activated receptor β/δ
Carnitine transporter OCTN2 and carnitine uptake in bovine kidney cells is regulated by peroxisome proliferator-activated receptor beta/delta
Identification and characterization of a carnitine transporter in Acinetobacter baumannii
Oligomeric structure of the carnitine transporter CaiT from Escherichia coli
Carnitine in valproate-induced hyperammonemia
Modeling primary carnitine deficiency-mediated dilated cardiomyopathy in engineered heart tissue format
Clinical aspects of human carnitine deficiency
Structural and Dynamic Assessment of Disease‐Causing Mutations for the Carnitine Transporter OCTN2