Pharmacological rescue of carnitine tran
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Cristina Amat di San Filippo; Marzia Pasquali; Nicola Longo
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Article
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2006
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John Wiley and Sons
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English
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## Communicated by Nancy Spinner Primary carnitine deficiency is a recessive disorder caused by heterogeneous mutations in the SLC22A5 gene encoding the OCTN2 carnitine transporter. Here we extend mutational analysis to eight new families with this disorder. To determine the mechanism by which miss