LAUSR

Three-Country Snapshot of Ornithine Transcarbamylase Deficiency

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1 Published in 2022 at "Life"

DOI: 10.3390/life12111721

Abstract: X-linked ornithine transcarbamylase deficiency (OTCD) is the most common urea cycle defect. The disease severity ranges from asymptomatic carrier state to severe neonatal presentation with hyperammonaemic encephalopathy. We audited the diagnosis and management of OTCD,… read more here.

Keywords: ornithine transcarbamylase; three country; country snapshot; transcarbamylase deficiency ... See more keywords