Articles with "dominant acute" as a keyword



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Update on the diagnosis and management of the autosomal dominant acute hepatic porphyrias

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Published in 2022 at "Journal of Clinical Pathology"

DOI: 10.1136/jclinpath-2021-207647

Abstract: The autosomal dominant acute hepatic porphyrias (AHPs), acute intermittent porphyria, hereditary coproporphyria (HCP) and variegate porphyria (VP), are low penetrance adult onset disorders caused by partial deficiency of enzymes of haem biosynthesis. All are associated… read more here.

Keywords: acute hepatic; diagnosis; hepatic porphyrias; autosomal dominant ... See more keywords