Homozygous hydroxymethylbilane synthase knock-in mice provide pathogenic insights into the severe neurological impairments present in human homozygous dominant acute intermittent porphyria.
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DOI: 10.1093/hmg/ddz003
Abstract: Acute intermittent porphyria (AIP) is an inborn error of heme biosynthesis due to the deficiency of hydroxymethylbilane synthase (HMBS) activity. Human AIP heterozygotes have episodic acute neurovisceral attacks that typically start after puberty, whereas patients… read more here.
Keywords: hydroxymethylbilane synthase; homozygous dominant; knock mice; acute intermittent ... See more keywords