Blar i Bergen Open Research Archive på forfatter "Fiorentino, Valeria"
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Acute Intermittent Porphyria: An Overview of Therapy Developments and Future Perspectives Focusing on Stabilisation of HMBS and Proteostasis Regulators
Bustad, Helene J.; Kallio, Juha Pekka; Vorland, Marta; Fiorentino, Valeria; Sandberg, Sverre; Schmitt, Caroline; Aarsand, Aasne Karine; Martinez, Aurora (Journal article; Peer reviewed, 2021)Acute intermittent porphyria (AIP) is an autosomal dominant inherited disease with low clinical penetrance, caused by mutations in the hydroxymethylbilane synthase (HMBS) gene, which encodes the third enzyme in the haem ...