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2025

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1988 1
1990 2
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2013 3
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34 results

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Page 1
Carnitine Inborn Errors of Metabolism.
Almannai M, Alfadhel M, El-Hattab AW. Almannai M, et al. Molecules. 2019 Sep 6;24(18):3251. doi: 10.3390/molecules24183251. Molecules. 2019. PMID: 31500110 Free PMC article. Review.
Disorders of carnitine biosynthesis and transport.
El-Hattab AW, Scaglia F. El-Hattab AW, et al. Mol Genet Metab. 2015 Nov;116(3):107-12. doi: 10.1016/j.ymgme.2015.09.004. Epub 2015 Sep 10. Mol Genet Metab. 2015. PMID: 26385306 Review.
Carnitine deficiency syndromes.
Breningstall GN. Breningstall GN. Pediatr Neurol. 1990 Mar-Apr;6(2):75-81. doi: 10.1016/0887-8994(90)90037-2. Pediatr Neurol. 1990. PMID: 2187442 Review.
Most systemic carnitine deficiencies are secondary to other disorders that promote excretion of carnitine as acylcarnitine; however, primary systemic carnitine deficiency, likely due to impaired renal conservation of carnitine, also occurs....
Most systemic carnitine deficiencies are secondary to other disorders that promote excretion of carnitine as acylcarnitine; however, primary …
Significance of l-carnitine for human health.
Adeva-Andany MM, Calvo-Castro I, Fernández-Fernández C, Donapetry-García C, Pedre-Piñeiro AM. Adeva-Andany MM, et al. IUBMB Life. 2017 Aug;69(8):578-594. doi: 10.1002/iub.1646. Epub 2017 Jun 26. IUBMB Life. 2017. PMID: 28653367 Free article. Review.
Carnitine transport by organic cation transporters and systemic carnitine deficiency.
Lahjouji K, Mitchell GA, Qureshi IA. Lahjouji K, et al. Mol Genet Metab. 2001 Aug;73(4):287-97. doi: 10.1006/mgme.2001.3207. Mol Genet Metab. 2001. PMID: 11509010 Review.
The importance of this sodium-dependent carnitine cotransporter, OCTN2, comes from various recently reported mutations in the gene which give rise to the primary systemic carnitine deficiency (SCD; OMIM 212140). The SCD is an autosomal recessive disorder of f …
The importance of this sodium-dependent carnitine cotransporter, OCTN2, comes from various recently reported mutations in the gene which giv …
Pharmacological and pathophysiological roles of carnitine/organic cation transporters (OCTNs: SLC22A4, SLC22A5 and Slc22a21).
Tamai I. Tamai I. Biopharm Drug Dispos. 2013 Jan;34(1):29-44. doi: 10.1002/bdd.1816. Epub 2012 Oct 14. Biopharm Drug Dispos. 2013. PMID: 22952014 Review.
Among them, OCTN2 is a sodium-dependent, high-affinity transporter of carnitine, and a functional defect of OCTN2 due to genetic mutation causes primary systemic carnitine deficiency (SCD). Since carnitine is essential for beta-oxidation of long-chain fatty a …
Among them, OCTN2 is a sodium-dependent, high-affinity transporter of carnitine, and a functional defect of OCTN2 due to genetic mutation ca …
34 results