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Journal of Internal Medicine|January 24, 2022
RNAi therapy with givosiran significantly reduces attack rates in acute intermittent porphyriaEliane Sardh, Pauline HarperCurrent Treatment Options in Gastroenterology|January 29, 2008
Treatment options in acute porphyria, porphyria cutanea tarda, and erythropoietic protoporphyriaPauline Harper, Staffan WahlinJournal of Human Genetics|August 16, 2002
Two novel mutations and coexistence of the 991C>T and the 1339C>T mutation on a single allele in the coproporphyrinogen oxidase gene in Swedish patients with hereditary coproporphyriaAsa Wiman, Ylva Floderus, Pauline HarperMolecular and Cellular Biochemistry|September 10, 2003
Correction of the biochemical defect in porphobilinogen deaminase deficient cells by non-viral gene deliveryAnnika Johansson, Christer Möller, Pauline HarperJournal of Human Genetics|February 26, 2003
Novel mutations and phenotypic effect of the splice site modulator IVS3-48C in nine Swedish families with erythropoietic protoporphyriaAsa Wiman, Ylva Floderus, Pauline HarperClinical Case Reports|October 20, 2025
Persistent Beetroot Colored Urine in a Three-Year-Old Child: A Case ReportPauline Harper, Carl-Johan Törnhage, Eliane SardhMolecular Genetics and Metabolism|April 28, 2004
Non-viral delivery of the porphobilinogen deaminase cDNA into a mouse model of acute intermittent porphyriaAnnika Johansson, Grzegorz Nowak, Christer Möller, et al.Orphanet Journal of Rare Diseases|January 18, 2013
Partial protoporphyrinogen oxidase (PPOX) gene deletions, due to different Alu-mediated mechanisms, identified by MLPA analysis in patients with variegate porphyriaMichela Barbaro, Maire Kotajärvi, Pauline Harper, et al.Clinical Case Reports|December 28, 2020
Challenges in the management of acute intermittent porphyria with recurrent attacks during pregnancy: A case reportDaphne Vassiliou, Chariklia Lempessi, Pauline Harper, et al.Molecular Medicine (Cambridge, Mass.)|June 23, 2004
Biochemical characterization of porphobilinogen deaminase-deficient mice during phenobarbital induction of heme synthesis and the effect of enzyme replacementAnnika Johansson, Christer Möller, Jens Fogh, et al.Pageof 4