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Functional and Molecular Studies in Primary Carnitine Deficiency
Primary carnitine deficiency is caused by a defect in the OCTN2 carnitine transporter encoded by the SLC22A5 gene. It can cause hypoketotic hypoglycemia or cardiomyopathy in children, and sudden death in children and adults. Fibroblasts from affected patients have reduced carnitine transport. We eva...
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| Publicado no: | Hum Mutat |
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| Main Authors: | , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2017
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5665702/ https://ncbi.nlm.nih.gov/pubmed/28841266 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.23315 |
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