Browsing Department of Biomedicine by Journals "Molecular Therapy"
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A Pharmacological Chaperone Therapy for Acute Intermittent Porphyria
(Peer reviewed; Journal article, 2019-12-03)Mutations in hydroxymethylbilane synthase (HMBS) cause acute intermittent porphyria (AIP), an autosomal dominant disease where typically only one HMBS allele is mutated. In AIP, the accumulation of porphyrin precursors ...