Identification of Mutations and Evaluation of Cardiomyopathy in Turkish Patients with Primary Carnitine Deficiency
Author:
Publisher
Springer Berlin Heidelberg
Link
http://link.springer.com/content/pdf/10.1007/8904_2011_36
Reference51 articles.
1. Amat di San Filippo C, Wang Y, Longo N (2006) Functional domains in the carnitine transporter OCTN2, defective in primary carnitine deficiency. J Biol Chem 278:47776–47784
2. Amat di San Filippo C, Pasquali M, Longo N (2006) Pharmacological rescue of carnitine transport in primary carnitine deficiency. Hum Mutat 27:513–523
3. Amat di San Filippo C, Taylor MR, Mestroni L et al (2008) Cardiomyopathy and carnitine deficiency. Mol Genet Metab 94:162–166
4. Burwinkel B, Kreuder J, Schweitzer S et al (1999) Carnitine transporter OCTN2 mutations in systemic primary carnitine deficiency: a novel Arg169Gln mutation and a recurrent Arg282ter mutation associated with an unconventional splicing abnormality. Biochem Biophys Res Commun 261:484–487
5. Cano A, Ovaert C, Vianey-Saban C et al (2008) Carnitine membrane transporter deficiency: a rare treatable cause of cardiomyopathy and anemia. Pediatr Cardiol 29:163–165
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