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A. Loughlin

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Open access Sep 2026

Clinical characteristics, treatments and outcomes of patients with ornithine transcarbamylase deficiency (OTCD): a retrospective cohort study using a US electronic health record database

Ornithine transcarbamylase deficiency (OTCD) is a rare X-linked inherited disorder characterized by deficiency of the hepatic mitochondrial enzyme ornithine transcarbamylase, leading to elevated ammonia and glutamine blood levels and associated metabolic and neurological complications. Management with ammonia-sca...

A. Loughlin, Nicholas Ah Mew, W. Hsu et al. · 0 citations

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