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Published in 2017 at "Journal of Community Hospital Internal Medicine Perspectives"
DOI: 10.1080/20009666.2017.1317535
Abstract: ABSTRACT Acute intermittent porphyria (AIP) is a rare autosomal dominant hepatic porphyria due to deficiency of hydroxymethylbilane synthase (HMBS), also known as porphobilinogen deaminase leading to accumulation of porphyrin precursors. However, gene defect alone is…
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Keywords:
porphyria test;
acute intermittent;
intermittent porphyria;
test clinical ... See more keywords