Residual OCTN2 transporter activity, carnitine levels and symptoms correlate in patients with primary carnitine deficiency
Author:
Publisher
Elsevier BV
Subject
Endocrinology,Genetics,Molecular Biology
Reference30 articles.
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3. Disorders of carnitine transport and the carnitine cycle;Longo;Am. J. Med. Genet. C. Semin. Med. Genet.,2006
4. Systemic primary carnitine deficiency: an overview of clinical manifestations, diagnosis, and management;Magoulas;Orphanet J. Rare Dis.,2012
5. Primary systemic carnitine deficiency is caused by mutations in a gene encoding sodium ion-dependent carnitine transporter;Nezu;Nat. Genet.,1999
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3. Patients with primary carnitine deficiency treated with L‐carnitine are alive and doing well—A 10‐year follow‐up in the Faroe Islands;JIMD Reports;2023-09-11
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5. Functional genomics of OCTN2 variants informs protein-specific variant effect predictor for Carnitine Transporter Deficiency;Proceedings of the National Academy of Sciences;2022-11-07
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