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Emerging neurological and cognitive symptoms in patients with late-onset ornithine transcarbamylase deficiency: a narrative review

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Ornithine transcarbamylase deficiency (OTCD) is a rare X-linked urea cycle disorder associated with mild-to-severe neurological/cognitive symptoms that impact quality of life. Most patients are diagnosed with late-onset OTCD after 28 days of age. Emerging symp... ...