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Nonsense and frameshift mutations, however, are typically associated with lower carnitine transport and are more prevalent in symptomatic individuals, whereas missense mutations and in-frame deletions (with some residual carnitine transport activity) are more prevalent in asymptomatic mothers identified by newborn screening of their unaffected infants [82]

Taichman RS, Cooper C, Keller ET, Pienta KJ, Taichman NS, McCauley LK

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A randomized double-blind, placebo-, and active-controlled study of T-type calcium channel blocker ABT-639 in patients with diabetic peripheral neuropathic pain

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Accessed 11/3/2020, Kerber KA