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Burwinkel B, Kreuder J, Schweitzer S, Vorgerd M, Gempel K, Gerbitz KD, Kilimann MW: Carnitine transporter OCTN2 mutations in systemic primary carnitine deficiency: a novel Arg169Gln mutation and a recurrent Arg282ter mutation associated with an unconventional splicing abnormality

What has emerged is a pattern similar to that observed in CF: a diminished amount of CFTR leads to an upregulation of SOD1 and a downregulation of CAT

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