Pauline Harper

Publikationer
CV
Populärvetenskap och samverkan

Artiklar

Article: JOURNAL OF INHERITED METABOLIC DISEASE. 2023;46(6):1186-1194
Porphyrin precursors and risk of primary liver cancer in acute intermittent porphyria: A case-control study of 188 patients
Lissing M; Wester A; Vassiliou D; Floderus Y; Harper P; Sardh E; Wahlin S
Article: JOURNAL OF INHERITED METABOLIC DISEASE. 2023;46(4):662-674
Key terms and definitions in acute porphyrias: Results of an international Delphi consensus led by the European porphyria network
Stein P; Edel Y; Mansour RA; Mustafa R; Sandberg S
Article: JOURNAL OF INHERITED METABOLIC DISEASE. 2023;46(2):286-299
Risk for incident comorbidities, nonhepatic cancer and mortality in acute hepatic porphyria: A matched cohort study in 1244 individuals
Lissing M; Vassiliou D; Floderus Y; Harper P; Yan J; Hagstrom H; Sardh E; Wahlin S
Article: JOURNAL OF INTERNAL MEDICINE. 2022;291(6):824-836
Risk of primary liver cancer in acute hepatic porphyria patients: A matched cohort study of 1244 individuals
Lissing M; Vassiliou D; Floderus Y; Harper P; Bottai M; Kotopouli M; Hagstrom H; Sardh E; Wahlin S
Article: CLINICAL PHARMACOLOGY & THERAPEUTICS. 2021;110(5):1250-1260
A Drug-Drug Interaction Study Evaluating the Effect of Givosiran, a Small Interfering Ribonucleic Acid, on Cytochrome P450 Activity in the Liver
Vassiliou D; Sardh E; Harper P; Simon AR; Clausen VA; Najafian N; Robbie GJ; Agarwal S
Journal article: AMERICAN JOURNAL OF GASTROENTEROLOGY. 2020;115(1):s584-s585
S1169 Twelve-Month Interim Analysis of Efficacy and Safety of Givosiran, an Investigational RNAi Therapeutic for Acute Hepatic Porphyria, in the ENVISION Open Label Extension
Sardh E; Balwani M; Rees DC; Stein P; Stölzel U; Peiro PA; Bissell DM; Bonkovsky HL; Keel S; Parker C; Phillips JD; Silver S; Windyga J; D’Avola D; Ross G; Stewart P; Ritchie B; Harper P; Wang J-D; Langendonk J; Ivanova A; Horie Y; Anderson KE; Ventura P; Cappellini MD; Vassiliou D; Monroy S; Petrides PE; Adachi T; Kuter D; Scalera S; Penz C; Liu S; Ko JJ; Simon A; Gouya L
Journal article: AMERICAN JOURNAL OF GASTROENTEROLOGY. 2020;115(1):s578
S1154 Clinical Outcomes in Patients With Acute Hepatic Porphyria Treated With Givosiran Who Stopped Hemin Prophylaxis at Study Entry: A Post Hoc Analysis of Data From the Phase 3 ENVISION Study Through Month 12
Bonkovsky HL; Balwani M; Sardh E; Gouya L; Rees DC; Stein P; Stölzel U; Peiro PA; Bissell DM; Keel S; Parker C; Silver S; Windyga J; D’Avola D; Ross G; Stewart P; Ritchie B; Oh J; Harper P; Wang J-D; Langendonk J; Ivanova A; Horie Y; Anderson KE; Minder E; Vassiliou D; Kubisch I; Guillen-Navarro E; Coman D; Goto Y; Kuo H-C; Hua Z; Simon A; Ko JJ; Ventura P
Journal article: JOURNAL OF HEPATOLOGY. 2020;73:s63
AS086 Primary liver cancer in acute hepatic porphyria: a national cohort study
Lissing M; Vassiliou D; Floderus Y; Harper P; Bottai M; Kotopouli M; Hagström H; Sardh E; Wahlin S
Journal article: JOURNAL OF HEPATOLOGY. 2020;73:s553-s554
FRI310 A phase 1/2 open label extension study of givosiran, an investigational RNAi therapeutic, in patients with acute intermittent porphyria
Stein P; Rees D; Anderson K; Bonkovsky H; Sardh E; Harper P; Balwani M; Parket C; Phillips J; Vassiliou D; Penz C; Chan A; Liu G; Simon A; Bissell DM
Journal article: JOURNAL OF HEPATOLOGY. 2020;73:s62-s63
AS085 Twelve-month interim analysis of efficacy and safety of givosiran, an investigational RNAi therapeutic for acute hepatic porphyria, in the envision open label extension
Sardh E; Balwani M; Rees D; Stein P; Stözel U; Aguilera P; Bissell DM; Bonkovsky H; Keel S; Parket C; Phillips J; Silver S; Windyga J; D’Avola D; Ross G; Stewart P; Ritchie B; Harper P; Wang J-D; Langendonk JL; Ivanova A; Horie Y; Anderson K; Ventura P; Cappellini MD; Vassiliou D; Monroy-Santoyo S; Petrides P; Adachi T; Kuter D; Scalera S; Penz C; Liu G; Ko J; Simon A; Gouya L
Article: NEW ENGLAND JOURNAL OF MEDICINE. 2020;382(24):2289-2301
Phase 3 Trial of RNAi Therapeutic Givosiran for Acute Intermittent Porphyria
Balwani M; Sardh E; Ventura P; Peiro PA; Rees DC; Stoelzel U; Bissell DM; Bonkovsky HL; Windyga J; Anderson KE; Parker C; Silver SM; Keel SB; Wang J-D; Stein PE; Harper P; Vassiliou D; Wang B; Phillips J; Ivanova A; Langendonk JG; Kauppinen R; Minder E; Horie Y; Penz C; Chen J; Liu S; Ko JJ; Sweetser MT; Garg P; Vaishnaw A; Kim JB; Simon AR; Gouya L
Article: HEPATOLOGY. 2020;71(5):1546-1558
EXPLORE: A Prospective, Multinational, Natural History Study of Patients with Acute Hepatic Porphyria with Recurrent Attacks
Gouya L; Ventura P; Balwani M; Bissell DM; Rees DC; Stoelzel U; Phillips JD; Kauppinen R; Langendonk JG; Desnick RJ; Deybach J-C; Bonkovsky HL; Parker C; Naik H; Badminton M; Stein PE; Minder E; Windyga J; Bruha R; Cappellini MD; Sardh E; Harper P; Sandberg S; Aarsand AK; Andersen J; Alegre F; Ivanova A; Talbi N; Chan A; Querbes W; Ko J; Penz C; Liu S; Lin T; Simon A; Anderson KE
Article: GENETICS IN MEDICINE. 2019;21(11):2605-2613
International Porphyria Molecular Diagnostic Collaborative: an evidence-based database of verified pathogenic and benign variants for the porphyrias
Chen B; Whatley S; Badminton M; Aarsand AK; Anderson KE; Bissell DM; Bonkovsky HL; Cappellini MD; Floderus Y; Friesema ECH; Gouya L; Harper P; Kauppinen R; Loskove Y; Martasek P; Phillips JD; Puy H; Sandberg S; Schmitt C; To-Figueras J; Weiss Y; Yasuda M; Deybach J-C; Desnick RJ
Article: NEW ENGLAND JOURNAL OF MEDICINE. 2019;380(6):549-558
Phase 1 Trial of an RNA Interference Therapy for Acute Intermittent Porphyria
Sardh E; Harper P; Balwani M; Stein P; Rees D; Bissell DM; Desnick R; Parker C; Phillips J; Bonkovsky HL; Vassiliou D; Penz C; Chan-Daniels A; He Q; Querbes W; Fitzgerald K; Kim JB; Garg P; Vaishnaw A; Simon AR; Anderson KE
Journal article: REVUE DE MEDECINE INTERNE. 2018;39:a186
Étude de phase 1/2 et d’extension en ouvert du Givosiran, un agent thérapeutique ARNi expérimental chez des patients atteints de porphyrie aiguë intermittente
Desnick R; Sardh E; Harper P; Balwani M; Stein P; Rees D; Bloomer J; Bissel D; Park C; Phillips J; Bonkovsky H; Anderson K
Article: JOURNAL OF INTERNAL MEDICINE. 2018;284(1):78-91
Recurrent attacks of acute hepatic porphyria: major role of the chronic inflammatory response in the liver
Schmitt C; Lenglet H; Yu A; Delaby C; Benecke A; Lefebvre T; Letteron P; Paradis V; Wahlin S; Sandberg S; Harper P; Sardh E; Sandvik AK; Hov JR; Aarsand AK; Chiche L; Bazille C; Scoazec J-Y; To-Figueras J; Carrascal M; Abian J; Mirmiran A; Karim Z; Deybach J-C; Puy H; Peoc'h K; Manceau H; Gouya L
Article: JOURNAL OF HEPATOLOGY. 2016;65(4):776-783
Phase I open label liver-directed gene therapy clinical trial for acute intermittent porphyria
D'Avola D; Lopez-Franco E; Sangro B; Paneda A; Grossios N; Gil-Farina I; Benito A; Twisk J; Paz M; Ruiz J; Schmidt M; Petry H; Harper P; Enriquez de Salamanca R; Fontanellas A; Prieto J; Gonzalez-Aseguinolaza G
Article: JOURNAL OF PROTEOMICS. 2015;127(Pt B):377-385
Vitamin D-binding protein as a biomarker of active disease in acute intermittent porphyria
Serrano-Mendioroz I; Sampedro A; Isabel Mora M; Mauleon I; Segura V; Enriquez de Salamanca R; Harper P; Sardh E; Jose Corrales F; Fontanellas A
Article: CELL TRANSPLANTATION. 2014;23(9):1153-1162
Hepatocyte Transplantation Ameliorates the Metabolic Abnormality in a Mouse Model of Acute Intermittent Porphyria
Yin Z; Wahlin S; Ellis ECS; Harper P; Ericzon B-G; Nowak G
Article: JOURNAL OF INHERITED METABOLIC DISEASE. 2013;36(6):1063-1071
High risk of primary liver cancer in a cohort of 179 patients with Acute Hepatic Porphyria
Sardh E; Wahlin S; Bjornstedt M; Harper P; Andersson DEH
Article: JOURNAL OF INHERITED METABOLIC DISEASE. 2013;36(5):849-857
The incidence of inherited porphyrias in Europe
Elder G; Harper P; Badminton M; Sandberg S; Deybach J-C
Article: ORPHANET JOURNAL OF RARE DISEASES. 2013;8:13
Partial protoporphyrinogen oxidase (PPOX) gene deletions, due to different Alu-mediated mechanisms, identified by MLPA analysis in patients with variegate porphyria
Barbaro M; Kotajarvi M; Harper P; Floderus Y
Article: CLINICAL GENETICS. 2012;81(3):249-256
Identification of an AluY-mediated deletion of exon 5 in the CPOX gene by MLPA analysis in patients with hereditary coproporphyria
Barbaro M; Kotajarvi M; Harper P; Floderus Y
Article: PLOS ONE. 2012;7(3):e32978
Renal Failure Affects the Enzymatic Activities of the Three First Steps in Hepatic Heme Biosynthesis in the Acute Intermittent Porphyria Mouse
Unzu C; Sampedro A; Sardh E; Mauleon I; Enriquez de Salamanca R; Prieto J; Salido E; Harper P; Fontanellas A
Article: LIVER TRANSPLANTATION. 2011;17(9):1021-1026
Liver Transplantation for Erythropoietic Protoporphyria in Europe
Wahlin S; Stal P; Adam R; Karam V; Porte R; Seehofer D; Gunson BK; Hillingso J; Klempnauer JL; Schmidt J; Alexander G; O'Grady J; Clavien P-A; Salizzoni M; Paul A; Rolles K; Ericzon B-G; Harper P
Article: JOURNAL OF INTERNAL MEDICINE. 2011;269(3):278-288
Erythropoietic protoporphyria in Sweden: demographic, clinical, biochemical and genetic characteristics
Wahlin S; Floderus Y; Stal P; Harper P
Article: TRANSPLANT INTERNATIONAL. 2010;23(6):e18-e21
Combined liver and kidney transplantation in acute intermittent porphyria
Wahlin S; Harper P; Sardh E; Andersson C; Andersson DEH; Ericzon B-G
Article: EUROPEAN JOURNAL OF INTERNAL MEDICINE. 2009;20(2):201-207
Plasma porphobilinogen as a sensitive biomarker to monitor the clinical and therapeutic course of acute intermittent porphyria attacks
Sardh E; Harper P; Andersson DEH; Floderus Y
Article: CELLULAR AND MOLECULAR BIOLOGY. 2009;55(1):66-71
PORPHYRIN PRECURSORS AND PORPHYRINS IN THREE PATIENTS WITH ACUTE INTERMITTENT PORPHYRIA AND END-STAGE RENAL DISEASE UNDER DIFFERENT THERAPY REGIMES.
Sardh E; Andersson DEH; Henrichson A; Harper P
Article: LIVER TRANSPLANTATION. 2008;14(9):1340-1346
Protection from phototoxic injury during surgery and endoscopy in erythropoietic Protoporphyria
Wahlin S; Srikanthan N; Hamre B; Harper P; Brun A
Article: CURRENT TREATMENT OPTIONS IN GASTROENTEROLOGY. 2007;10(6):444-455
Treatment options in acute porphyria, porphyria cutanea tarda, and erythropoietic protoporphyria.
Harper P; Wahlin S
Article: CLINICAL PHARMACOKINETICS. 2007;46(4):335-349
Safety, pharmacokinetics and pharmocodynamics of recombinant human porphobilinogen deaminase in healthy subjects and asymptomatic carriers of the acute intermittent porphyria gene who have increased porphyrin precursor excretion
Sardh E; Rejkjaer L; Andersson DEH; Harper P
Article: JOURNAL OF HEPATOLOGY. 2007;46(1):174-179
Curative bone marrow transplantation in erythropoietic protoporphyria after reversal of severe cholestasis
Wahlin S; Aschan J; Bjornstedt M; Broome U; Harper P
Article: CLINICAL CHEMISTRY. 2006;52(4):701-707
Variations in porphobilinogen and 5-aminolevulinic acid concentrations in plasma and urine from asymptomatic carriers of the acute intermittent porphyria gene with increased porphyrin precursor excretion
Floderus Y; Sardh E; Möller C; Andersson C; Rejkjaer L; Andersson DEH; Harper P
Article: INTERNATIONAL ARCHIVES OF OCCUPATIONAL AND ENVIRONMENTAL HEALTH. 2006;79(2):165-168
Lead poisoning from souvenir earthenware
Hellström-Lindberg E; Björklund A; Karlson-Stiber C; Harper P; Seldén AI
Article: PHYSIOLOGICAL RESEARCH. 2006;55:S67-S73
European Porphyria Initiative (EPI): A platform to develop a common approach to the management of porphyrias and to promote research in the field
Deybach J-C; Badminton M; Puy H; Sandberg S; Frank J; Harper P; Martasek P; Minder E; Parker S; Thunell S; Elder G
Article: PHYSIOLOGICAL RESEARCH. 2006;55:S155-S157
The difficult clinical diagnosis of erythropoietic protoporphyria
Wahlin S; Floderus Y; Ros A-M; Broome U; Harper P
Article: PHYSIOLOGICAL RESEARCH. 2006;55:S109-S118
Porphyria in Sweden
Thunell S; Floderus Y; Henrichson A; Harper P
Article: ACTA DERMATO-VENEREOLOGICA. 2005;85(2):164-166
The prevalence of hepatitis C in patients with porphyria cutanea tarda in Stockholm, Sweden
Linde Y; Harper P; Floderus Y; Ros AM
Article: MOLECULAR THERAPY. 2004;10(2):337-343
Adenoviral-mediated expression of porphobilinogen deaminase in liver restores the metabolic defect in a mouse model of acute intermittent porphyria
Johansson A; Nowak G; Möller C; Blomberg P; Harper P
Article: MOLECULAR GENETICS AND METABOLISM. 2004;82(1):20-26
Non-viral delivery of the porphobilinogen deaminase cDNA into a mouse model of acute intermittent porphyria
Johansson A; Nowak G; Möller C; Harper P
Article: MOLECULAR MEDICINE. 2003;9(9-12):193-199
Biochemical characterization of porphobilinogen deaminase-deficient mice during phenobarbital induction of heme synthesis and the effect of enzyme replacement
Johansson A; Möller C; Fogh J; Harper P
Article: CLINICAL GENETICS. 2003;64(2):122-130
Nine novel mutations in the protoporphyrinogen oxidase gene in Swedish families with variegate porphyria
Wiman Å; Harper P; Floderus Y
Article: MOLECULAR AND CELLULAR BIOCHEMISTRY. 2003;250(1-2):65-71
Correction of the biochemical defect in porphobilinogen deaminase deficient cells by non-viral gene delivery
Johansson A; Möller C; Harper P
Article: JOURNAL OF HUMAN GENETICS. 2003;48(2):70-76
Novel mutations and phenotypic effect of the splice site modulator IVS3-48C in nine Swedish families with erythropoietic protoporphyria
Wiman Å; Floderus Y; Harper P
Article: CLINICAL GENETICS. 2002;62(4):288-297
Acute intermittent porphyria in Sweden. Molecular, functional and clinical consequences of some new mutations found in the porphobilinogen deaminase gene
Floderus Y; Shoolingin-Jordan PM; Harper P
Article: JOURNAL OF HUMAN GENETICS. 2002;47(8):407-412
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 coproporphyria
Wiman Å; Floderus Y; Harper P
Article: SCANDINAVIAN JOURNAL OF CLINICAL & LABORATORY INVESTIGATION. 2002;62(2):105-113
Non-viral mediated gene transfer of porphobilinogen deaminase into mammalian cells
Johansson A; Möller C; Gellerfors P; Harper P
Article: BLOOD. 2001;97(10):2972-2978
Highly heterogeneous nature of δ-aminolevulinate dehydratase (ALAD) deficiencies in ALAD porphyria
Maruno M; Furuyama K; Akagi R; Horie Y; Meguro K; Garbaczewski L; Chiorazzi N; Doss MO; Hassoun A; Mercelis R; Verstraeten L; Harper P; Floderus Y; Thunell S; Sassa S
Article: SCANDINAVIAN JOURNAL OF CLINICAL & LABORATORY INVESTIGATION. 2000;60(7):541-559
Porphyrins, porphyrin metabolism and porphyrias. II. Diagnosis and monitoring in the acute porphyrias
Thunell S; Harper P; Brock A; Petersen NE
Article: BRITISH JOURNAL OF HAEMATOLOGY. 1999;106(4):931-937
A novel mutation of δ-aminolaevulinate dehydratase in a healthy child with 12% erythrocyte enzyme activity
Akagi R; Yasui Y; Harper P; Sassa S
Article: LAKARTIDNINGEN. 1998;95(26-27):3051-3056
[Risk of liver failure in erythropoietic protoporphyria. Be alert for sings of cholestatic development!].
Harper P; Thunell S; Ericzon BG; Hultcrantz R; Ros AM
Article: LAKARTIDNINGEN. 1998;95(25):2932-2935
[Porphyria--a metabolic mine field].
Floderus Y; Harper P; Henrichson A; Thunell S
Article: JOURNAL OF INTERNAL MEDICINE. 1997;242(3):255-259
Large phlebotomy in variegate porphyria
Harper P; Hybinette T; Thunell S
Article: EUROPEAN JOURNAL OF CLINICAL CHEMISTRY AND CLINICAL BIOCHEMISTRY. 1997;35(6):427-433
Effects of administration of antioxidants in acute intermittent porphyria
Thunell S; Andersson D; Harper P; Henrichson A; Lindh U
Article: AMERICAN JOURNAL OF CLINICAL NUTRITION. 1995;61(1):18-25
INCREASED LIVER CARNITINE CONTENT IN OBESE WOMEN
HARPER P; WADSTROM C; BACKMAN L; CEDERBLAD G
Journal article: EUROPEAN JOURNAL OF GASTROENTEROLOGY & HEPATOLOGY. 1993;5(3):177-181
LIVER CARNITINE CONTENT IN CHRONIC-ALCOHOLICS IN ALCOHOL-WITHDRAWAL
HARPER P; SCHMIDT D; HULTCRANTZ R; CEDERBLAD G
Journal article: EUROPEAN JOURNAL OF APPLIED PHYSIOLOGY AND OCCUPATIONAL PHYSIOLOGY. 1991;62(6):450
CARNITINE ADMINISTRATION AS A TOOL OF MODIFY ENERGY-METABOLISM DURING EXERCISE
HULTMAN E; CEDERBLAD G; HARPER P
Journal article: ANALYTICAL BIOCHEMISTRY. 1990;185(2):274-278
RADIOISOTOPIC ASSAYS OF COASH AND CARNITINE AND THEIR ACETYLATED FORMS IN HUMAN SKELETAL-MUSCLE
CEDERBLAD G; CARLIN JI; CONSTANTINTEODOSIU D; HARPER P; HULTMAN E
Journal article: EUROPEAN JOURNAL OF CLINICAL PHARMACOLOGY. 1988;35(1):69-75
PHARMACOKINETICS OF BOLUS INTRAVENOUS AND ORAL DOSES OF L-CARNITINE IN HEALTHY-SUBJECTS
HARPER P; ELWIN CE; CEDERBLAD G
Journal article: EUROPEAN JOURNAL OF CLINICAL PHARMACOLOGY. 1988;35(5):555-562
PHARMACOKINETICS OF INTRAVENOUS AND ORAL BOLUS DOSES OF L-CARNITINE IN HEALTHY-SUBJECTS
HARPER P; ELWIN CE; CEDERBLAD G
Journal article: CLINICAL CHEMISTRY. 1986;32(11):2117-2118
MORE ON DETERMINATION OF ACYLCARNITINE
CEDERBLAD G; HARPER P
Journal article: CLINICAL CHEMISTRY. 1986;32(2):342-346
SPECTROPHOTOMETRY OF CARNITINE IN BIOLOGICAL-FLUIDS AND TISSUE WITH A COBAS BIO CENTRIFUGAL ANALYZER
CEDERBLAD G; HARPER P; LINDGREN K
Journal article: SCANDINAVIAN JOURNAL OF CLINICAL & LABORATORY INVESTIGATION. 1985;45(1):83-86
DETERMINATION OF CHOLESTERYL SULFATE BY ISOTOPE-DILUTION MASS-SPECTROMETRY FOR DIAGNOSIS OF STEROID SULFATASE DEFICIENCY
BJORKHEM I; ENOCKSSON E; HARPER P
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Alla övriga publikationer

Editorial comment: CANCERS. 2023;15(3):795
Comment on Ramai et al. Risk of Hepatocellular Carcinoma in Patients with Porphyria: A Systematic Review
Lissing M; Vassiliou D; Harper P; Sardh E; Wahlin S
Review: JOURNAL OF INTERNAL MEDICINE. 2022;291(5):593-610
RNAi therapy with givosiran significantly reduces attack rates in acute intermittent porphyria
Sardh E; Harper P
Other: CLINICAL CASE REPORTS. 2020;8(12):2483-2487
Challenges in the management of acute intermittent porphyria with recurrent attacks during pregnancy: A case report
Vassiliou D; Lempessi C; Harper P; Sardh E
Conference publication: DIGESTIVE AND LIVER DISEASE. 2020;52:E35
Overall Health, Daily Functioning, and Quality of Life in Acute Hepatic Porphyria Patients: ENVISION, a Phase 3 Global, Multicenter, Randomized, Double-Blind, Placebo-Controlled Trial
Sardh E; Gouya L; Rees DC; Stein P; Stoelzel U; Aguilera Peiro P; Bissell DM; Bonkovsky HL; Keel S; Parker C; Phillips JD; Silver S; Windyga J; D'Avola D; Ross G; Stewart P; Ritchie B; Oh J; Harper P; Wang JD; Langendonk JG; Ivanova A; Horie Y; Anderson KE; Ventura P; Kauppinen R; Vassiliou D; Wang B; Hother-Nielsen O; Nakahara T; Lee MJ; Sasapu A; Scalera S; Lin T; Penz C; Simon A; Ko J; Balwani M
Conference publication: AMERICAN JOURNAL OF GASTROENTEROLOGY. 2020;115:S584-S585
Twelve-Month Interim Analysis of Efficacy and Safety of Givosiran, an Investigational RNAi Therapeutic for Acute Hepatic Porphyria, in the ENVISION Open Label Extension
Sardh E; Balwani M; Rees DC; Stein P; St U; Peiro PA; Bissell DM; Bonkovsky HL; Keel S; Parker C; Phillips JD; Silver S; Windyga J; D'Avola D; Ross G; Stewart P; Ritchie B; Harper P; Wang J-D; Langendonk J; Ivanova A; Horie Y; Anderson KE; Ventura P; Cappellini MD; Vassiliou D; Monroy S; Petrides PE; Adachi T; Kuter D; Scalera S; Penz C; Liu S; Ko JJ; Simon A; Gouya L
Conference publication: AMERICAN JOURNAL OF GASTROENTEROLOGY. 2020;115:S578
Clinical Outcomes in Patients With Acute Hepatic Porphyria Treated With Givosiran Who Stopped Hemin Prophylaxis at Study Entry: A Post Hoc Analysis of Data From the Phase 3 ENVISION Study Through Month 12
Bonkovsky HL; Balwani M; Sardh E; Gouya L; Rees DC; Stein P; Stoelzel U; Aguilera Peiro P; Bissell DM; Keel S; Parker C; Silver S; Windyga J; D'Avola D; Ross G; Stewart P; Ritchie B; Oh J; Harper P; Wang J-D; Langendonk J; Ivanova A; Horie Y; Anderson KE; Minder E; Vassiliou D; Kubisch I; Guillen-Navarro E; Coman D; Goto Y; Kuo H-C; Hua Z; Simon A; Ko JJ; Ventura P
Conference publication: JOURNAL OF HEPATOLOGY. 2020;73:S62-S63
Twelve-month interim analysis of efficacy and safety of givosiran, an investigational RNAi therapeutic for acute hepatic porphyria, in the envision open label extension
Sardh E; Balwani M; Rees D; Stein P; Stoezel U; Aguilera P; Bissell M; Bonkovsky H; Keel S; Parket C; Phillips J; Silver S; Windyga J; D'Avola D; Ross G; Stewart P; Ritchie B; Harper P; Wang J-D; Langendonk JL; Ivanova A; Horie Y; Anderson K; Ventura P; Cappellini MD; Vassiliou D; Monroy-Santoyo S; Petrides P; Adachi T; Kuter D; Scalera S; Penz C; Liu G; Ko J; Simon A; Gouya L
Conference publication: JOURNAL OF HEPATOLOGY. 2020;73:S63
Primary liver cancer in acute hepatic porphyria: a national cohort study
Lissing M; Vassiliou D; Floderus Y; Harper P; Bottai M; Kotopouli M; Hagstrom H; Sardh E; Wahlin S
Conference publication: JOURNAL OF HEPATOLOGY. 2020;73:S553-S554
A phase 1/2 open label extension study of givosiran, an investigational RNAi therapeutic, in patients with acute intermittent porphyria
Stein P; Rees D; Anderson K; Bonkovsky H; Sardh E; Harper P; Balwani M; Parket C; Phillips J; Vassiliou D; Penz C; Chan A; Liu G; Simon A; Bissell DM
Conference publication: CLINICAL PHARMACOLOGY & THERAPEUTICS. 2020;107:S59
A DRUG-DRUG INTERACTION STUDY INVESTIGATING THE EFFECT OF GIVOSIRAN ON ACTIVITY OF FIVE DRUG METABOLIZING CYP450 ENZYMES IN ACUTE HEPATIC PORPHYRIA (AHP) PATIENTS.
Agarwal S; Sardh E; Harper P; Vassiliou D; Simon A; Robbie G
Conference publication: AMERICAN JOURNAL OF GASTROENTEROLOGY. 2019;114:S578
Disease Characteristics of Acute Hepatic Porphyria Patients: ENVISION, a Phase 3 Global, Multicenter, Randomized, Double-Blind, Placebo-Controlled Trial
Anderson K; Balwani M; Sardh E; Gouya L; Rees D; Stein P; Stolzel U; Aguilera P; Bissell DM; Bonkovsky H; Keel S; Parker C; Phillips J; Silver S; Windyga J; D'Avola D; Ross G; Stewart P; Ritchie B; Oh J; Harper P; Wang J-D; Langendonk J; Ivanova A; Horie Y; Minder E; Vassiliou D; Kubisch I; Guillen-Navarro E; Coman D; Wang B; Kuo H-C; Scalera S; Penz C; Hua Z; Simon A; Ko JJ; Ventura P
Conference publication: HEPATOLOGY. 2019;68:723A-724A
Explore: A Prospective, Multinational Natural History Study of Acute Hepatic Porphyria Patients with Recurrent Attacks
Bonkovsky HL; Bissell DM; Ventura P; Desnick RJ; Balwani M; Rees D; Stoelzel U; Phillips J; Kauppinen R; Langendonk J; Deybach JC; Park C; Naik H; Anderson KE; Badminton M; Stein P; Minder E; Windyga J; Martasek P; Cappellini MD; Sardh E; Harper P; Sandberg S; Aarsand AK; Alegre M; Ivanova AVS; Chan A; Querbes W; Penz C; Simon A
Conference publication: JOURNAL OF HEPATOLOGY. 2019;70(1):E588
Management of acute hepatic porphyria attacks in europe and united states: EXPLORE international, prospective, natural history study
Sardh E; Balwani M; Gouya L; Bissell DM; Rees D; Stoelzel U; Phillips J; Kauppinen R; Langendonk J; Desnick R; Deybach JC; Bonkovsky H; Parker C; Naik H; Badminton M; Stein P; Minder E; Windyga J; Martasek P; Cappellini MD; Ventura P; Harper P; Sandberg S; Aarsand A; Alegre F; Ivanova A; Talbi N; Ko J; Cahana-Amitay D; Chan A; Quinn D; Penz C; Simon A; Lin T; Anderson K
Conference publication: JOURNAL OF HEPATOLOGY. 2019;70(1):E81-E82
ENVISION, a phase 3 study to evaluate efficacy and safety of givosiran, an investigational RNAi therapeutic targeting aminolevulinic acid synthase 1, in acute hepatic porphyria patients
Balwani M; Gouya L; Rees D; Stein P; Stolzel U; Aguilera P; Bissell DM; Bonkovsky H; Keel S; Parker C; Phillips J; Silver S; Windyga J; D'avola D; Ross G; Stewart P; Ritchie B; Oh J; Harper P; Wang J-D; Langendonk J; Ivanova A; Horie Y; Anderson K; Ventura P; Chan A; Penz C; Simon A; Dinh Q; Liu G; Sardh E
Conference publication: ACTA CLINICA BELGICA. 2019;74:53
ENVISION, a Phase 3 Study to Evaluate Efficacy and Safety of Givosiran, an Investigational RNAi Therapeutic Targeting Aminolevulinic Acid Synthase 1, in Patients with Acute Hepatic Porphyria
Balwani M; Gouya L; Rees D; Stein P; Stolzel U; Aguilera P; Bissell DM; Bonkovsky H; Keel S; Parker C; Philips J; Silver S; Windyga J; D'Avola D; Ross G; Stewart P; Ritchie B; Oh J; Harper P; Wang J-D
Conference publication: HEPATOLOGY. 2019;70:100A-101A
ENVISION, A PHASE 3 STUDY OF SAFETY AND EFFICACY OF GIVOSIRAN, AN INVESTIGATIONAL RNAi THERAPEUTIC, IN ACUTE HEPATIC PORPHYRIA PATIENTS
Bissell DM; Gouya L; Balwani M; Rees D; Stein P; Stolzel U; Peiro PA; Bonkovsky HL; Keel S; Park C; Phillips J; Silver S; Windyga J; D'Avola D; Ross G; Stewart P; Ritchie B; Oh J; Harper P; Wang J-D; Langendonk J; Ivanova AVS; Horie Y; Anderson KE; Ventura P; Cappellini MD; Vassiliou D; Monroy S; Petrides P; Adachi T; Kuter D; Scalera S; Penz C; Liu G; Simon A; Ko J; Sardh E
Conference publication: NEUROLOGY. 2019;92(15)
EXPLORE: A prospective, multinational natural history study of acute hepatic porphyria patients with recurrent attacks
Naik H; Desnick R; Gouya L; Balwani M; Bissell M; Rees D; Stolzel U; Phillips J; Kauppinen R; Langendonk J; Deybach L; Bonkovsky H; Parker C; Badminton M; Stein P; Minder E; Windyga J; Martasek P; Cappellini MD; Ventura P; Sardh E; Harper P; Sandberg S; Aarsand AK; Alegre F; Ivanova A; Chan A; Dinh Q; Querbes W; Penz C; Simon A; Anderson K
Conference publication: EUROPEAN JOURNAL OF NEUROLOGY. 2019;26:52
A phase 1/2 open-label extension study of givosiran, an investigational RNAi therapeutic, in patients with acute intermittent porphyria
Bissell M; Anderson KE; Bonkovsky DHL; Sardh E; Harper P; Balwani M; Rees D; Stein P; Bloomer JR; Parker C; Phillips J; Vassilliou D; Penz C; Chan A; Liu G; Querbes W; Simon A
Conference publication: VALUE IN HEALTH. 2018;21:S125
AN ANALYSIS OF HEALTHCARE UTILIZATION AND COSTS ASSOCIATED WITH PATIENTS WITH ACUTE HEPATIC PORPHYRIAS (AHPS) WITH RECURRENT ATTACKS IN EXPLORE: A PROSPECTIVE, MULTINATIONAL NATURAL HISTORY STUDY OF PATIENTS WITH AHP
Gouya L; Bloomer JR; Balwani M; Bissell DM; Rees DC; Stoelzel U; Phillips JD; Kauppinen R; Langendonk JG; Desnick R; Deybach J; Bonkovsky HI; Parker C; Naik H; Badminton M; Stein P; Minder EI; Windyga J; Martasek P; Cappellini M; Ventura P; Sardh E; Harper P; Sandberg S; Aarsand A; Alegre F; Ivanova A; Talbi N; Chan A; Querbes W; Penz C; Agarwal S; Simon A; Anderson KE
Conference publication: JOURNAL OF HEPATOLOGY. 2018;68:S66-S67
A phase 1/2, randomized, placebo controlled and open label extension studies of Givosiran and investigational RNA interference therapeutic, in patients with acute intermittent porphyria
Sardh E; Balwani M; Harper P; Stein P; Rees D; Bloomer J; Bissell DM; Parket C; Phillips J; Bonkovsky H; Desnick R; Al-Tawil N; Rock S; Penz C; Chan A; Querbes W; Simon A; Anderson K
Conference publication: JOURNAL OF HEPATOLOGY. 2018;68:S80-S81
EXPLORE: A prospective, multinational natural history study of patients with acute hepatic porphyria with recurrent attacks
Gouya L; Bloomer J; Balwani M; Bissell DM; Rees D; Stolzel U; Phillips J; Kauppinen RK; Langendonk JL; Desnick R; Deybach JC; Bonkovsky H; Parket C; Naik H; Badminton M; Stein P; Minder E; Windyga J; Martasek P; Cappellini MD; Ventura P; Sardh E; Harper P; Sandberg S; Aarsand A; Alegre F; Ivanova A; Rock S; Chan A; Querbes W; Penz C; Simon A; Anderson K
Conference publication: JOURNAL OF HEPATOLOGY. 2018;68:S622-S623
Trends in healthcare utilization in the United States and Europe associated with patient with acute hepatic porphyria with recurrent attacks in EXPLORE: A prospective, multinational natural history study of patients with acute hepatic porphyria
Gouya L; Balwani M; Bissell DM; Rees D; Stoelzel U; Phillips J; Kauppinen RK; Langendonk JL; Desnick R; Deybach JC; Bonkovsky H; Parket C; Naik H; Badminton M; Stein P; Minder E; Windyga J; Martasek P; Cappellini MD; Ventura P; Sardh E; Harper P; Sandberg S; Aarsand A; Alegre F; Ivanova A; Talbi N; Chan A; Mccarthy K; Querbes W; Penz C; Agarwal S; Simon A; Anderson K
Conference publication: JOURNAL OF HEPATOLOGY. 2018;68:S622
Impact of acute hepatic porphyrias on quality of life and work loss: An analysis of EXPLORE natural history study
Gouya L; Balwani M; Bissell DM; Rees D; Stoelzel U; Phillips J; Kauppinen RK; Langendonk JL; Desnick R; Deybach JC; Bonkovsky H; Parket C; Naik H; Badminton M; Stein P; Minder E; Windyga J; Martasek P; Cappellini MD; Ventura P; Sardh E; Harper P; Sandberg S; Aarsand A; Alegre F; Ivanova A; Talbi N; Chan A; Mccarthy K; Querbes W; Penz C; Agarwal S; Simon A; Anderson K
Conference publication: HEPATOLOGY. 2018;68:50A-51A
Phase 1/2 and Open Label Extension Studies of Givosiran an Investigational RNAi Therapeutic, in Patients with Acute Intermittent Porphyria
Anderson KE; Bissell DM; Bonkovsky HL; Sardh E; Harper P; Balwani M; Stein P; Rees D; Bloomer JR; Park C; Phillips J; Al-Tawil N; Penz C; Chan A; Querbes W; Simon A
Conference publication: JOURNAL OF GENERAL INTERNAL MEDICINE. 2018;33:S192
EXPLORE: A PROSPECTIVE, MULTINATIONAL NATURAL HISTORY STUDY OF PATIENTS WITH ACUTE HEPATIC PORPHYRIA WITH RECURRENT ATTACKS
Phillips J; Gouya L; Bloomer J; Balwani M; Bissell DM; Rees DC; Stolzel U; Kauppinen RM; Langendonk JG; Desnick RJ; Deybach JC; Bonkovsky H; Parker C; Naik H; Badminton M; Stein P; Minder EL; Windyga J; Martasek P; Cappellini M; Sardh E; Harper P; Rock S; Chan A; Querbes W; Penz C; Simon A; Anderson K
Conference publication: JOURNAL OF GENERAL INTERNAL MEDICINE. 2018;33:S287-S288
PHASE 1/2, RANDOMIZED, PLACEBO CONTROLLED AND OPEN LABEL EXTENSION STUDIES OF GIVOSIRAN AN INVESTIGATIONAL RNA INTERFERENCE (RNAI) THERAPEUTIC, IN PATIENTS WITH ACUTE INTERMITTENT PORPHYRIA
Phillips J; Sardh E; Harper P; Balwani M; Stein P; Rees DC; Bloomer J; Bissell DM; Desnick RJ; Parker C; Bonkovsky H; Al-Tawil N; Rock S; Penz C; Chan A; Querbes W; Simon A; Anderson K
Conference publication: EUROPEAN JOURNAL OF NEUROLOGY. 2018;25:16
EXPLORE: a prospective, multinational natural history study of patients with acute hepatic porphyria with recurrent attacks
Gouya L; Bloomer J; Balwani M; Rees D; Bissell D; Bonkovsky H; Ventura P; Sardh E; Harper P; Desnick R; Rock S; Dinh Q; Chan A; Querbes W; Penz C; Simon A; Anderson K; Deybach J-C
Conference publication: EUROPEAN JOURNAL OF NEUROLOGY. 2018;25:18
Phase 1/2, randomized, placebo controlled and open-label extension studies of Givosiran an investigational RNA interference (RNAi) therapeutic, in patients with Acute Intermittent Porphyria
Sardh E; Phillips J; Harper P; Balwani M; Stein P; Rees D; Bloomer J; Bissell D; Desnick RJ; Parker C; Bonkovsky H; Al-Tawil N; Rock S; Dinh Q; Penz C; Chan A; Querbes W; Simon A; Anderson K
Conference publication: BLOOD. 2017;130
Explore: A Prospective, Multinational Natural History Study of Patients with Acute Hepatic Porphyrias (AHP) with Recurrent Attacks
Sardh E; Gouya L; Bloomer J; Balwani M; Bissell D; Rees DC; Stolzel U; Phillips JD; Kauppinen R; Langendonk J; Desnick RJ; Deybach J-C; Bonkovsky HL; Parker CJ; Naik H; Badminton M; Stein P; Minder E; Windyga J; Martasek P; Cappellini MD; Ventura P; Harper P; Sandberg S; Aarsand A; Alegre F; Ivanova A; Talbi N; Rock S; Chan A; Soh CH; McCarthy KA; Querbes W; Penz C; Simon A; Anderson K
Conference publication: HEPATOLOGY. 2017;66:443A
EXPLORE: A Prospective, Multinational Natural History Study of Patients with Acute Hepatic Porphyria (AHP) with Recurrent Attacks
Gouya L; Bloomer JR; Balwani M; Bissell DM; Rees D; Stolzel U; Phillips J; Kaupinnen R; Langendonk J; Desnick RJ; Deybach JC; Bonkovsky HL; Parker C; Naik H; Badminton M; Stein P; Minder E; Windyga J; Martasek P; Cappellini M; Ventura P; Sardh E; Harper P; Sandberg JK; Aarsand AK; Alegre F; Ivanova A; Chan A; Soh C-H; McCarthy K; Querbes W; Penz C; Simon A; Anderson KE
Conference publication: HEPATOLOGY. 2017;66:427A
Phase 1, Randomized, Placebo Controlled Study of Givosiran, an Investigational RNA Interference (RNAi) Therapeutic, in Patients with Acute Intermittent Porphyria: Interim study results
Sardh E; Harper P; Balwani M; Stein P; Rees D; Bloomer JR; Bissell DM; Desnick RJ; Parker C; Phillips J; Bonkovsky HL; Al-Tawil N; Penz C; Chan A; Soh C-H; Querbes W; Simon A; Rock S; Anderson KE
Conference publication: BLOOD. 2016;128(22):2318
Interim Data from a Randomized, Placebo Controlled, Phase 1 Study of Aln-AS1, an Investigational RNAi Therapeutic for the Treatment of Acute Hepatic Porphyria
Sardh E; Harper P; Al-Tawil N; Balwani M; Anderson K; Bloomer J; Bissel DM; Desnick RJ; Parker CJ; Phillips JD; Bonkovsky HL; Penz C; Chan A; Soh C-H; Querbes W; Simon A; Stein P; Rees DC
Conference publication: HEPATOLOGY. 2016;64:285A
EXPLORE: A prospective, multinational natural history study of acute hepatic porphyria patients with recurrent attacks
Anderson KE; Balwani M; Ventura P; Ivanova A; Bloomer JR; Bissell DM; Stolzel U; Parker C; Rees D; Stein P; Windyga J; Kaupinnen R; Langendonk J; Badminton M; Minder E; Martasek P; Alegre F; Cappellini M; Bonkovsky HL; Sandberg S; Aarsand AK; Desnick RJ; Deybach JC; Phillips J; Naik H; Sardh E; Harper P; Chan A; Soh C-H; McCarthy K; Querbes W; Penz C; Simon A; Gouya L
Conference publication: JOURNAL OF HEPATOLOGY. 2014;60(1):S58
PHASE 1 CLINICAL TRIAL OF LIVER DIRECTED GENE THERAPY WITH rAAV5-PBGD IN ACUTE INTERMITTENT PORPHYRIA: PRELIMINARY SAFETY DATA
D'Avola D; Lopez-Franco E; Harper P; Fontanellas A; Grosios N; Sangro B; Henrichson A; Salmon F; Fuertes C; Abecia S; Paneda A; Paz M; Cornet ME; Municio MDM; Troconiz I; Kaeppel C; Juan R; von Kalle C; Schmidt M; Petry H; Gonzalez-Aseguinolaza G; Enriquez de Salamanca R; Prieto J
Review: EXPERT OPINION ON ORPHAN DRUGS. 2014;2(4):349-368
Management of acute intermittent porphyria
Harper P; Sardh E
Conference publication: HUMAN GENE THERAPY. 2014;25(11):A36
Phase 1 clinical trial of liver directed gene therapy with rAAV5/2-PBGD in acute intermittent porphyria: safety data
D'Avola D; Lopez-Franco E; Harper P; Fontanellas A; Grosios N; Henrichson A; Salmon F; Abecia S; Paneda A; Paz M; Urdaneta M; Cornet ME; Municio MDM; Ruiz J; Troconiz I; Kaeppel C; von Kalle C; Schmidt M; Petry H; Sangro B; de Salamanca RE; Prieto J; Gonzalez-Aseguinolaza G
Conference publication: MOLECULAR THERAPY. 2014;22:S7
Phase 1 Clinical Trial of Liver Directed Gene Therapy With rAAV5-PBGD in Acute Intermittent Porphyria: Preliminary Safety Data
D'Avola D; Lopez-Franco E; Harper P; Fontanellas A; Grosios N; Sangro B; Henrichson A; Salmon F; Abecia S; Paneda A; Paz M; Eugenia Cornet M; Del Municio M; Troconiz I; Kaeppel C; Ruiz J; von Kalle C; Schmidt M; Petry H; Enriquez de Salamanca R; Prieto J; Gonzalez-Aseguinolaza G
Book chapter: HANDBOOK OF PORPHYRIN SCIENCE (VOLUME 29): HANDBOOK OF PORPHYRIN SCIENCE. 2013;p. 329-367
Liver Transplantation in Acute Hepatic Porphyria and Erythropoietic Protoporphyria
Wahlin S; Harper P
Conference publication: JOURNAL OF HEPATOLOGY. 2011;54:S15-S16
LIVER TRANSPLANTATION FOR ERYTHROPOIETIC PROTOPORPHYRIA IN EUROPE
Wahlin S; Stal P; Adam R; Karam V; Porte P; Seehofer D; Gunson BK; Hillingso J; Klempnauer JL; Schmidt J; Alexander G; O'Grady J; Clavien PA; Salizzoni M; Paul A; Rolles K; Ericzon BG; Harper P
Conference publication: BRITISH JOURNAL OF DERMATOLOGY. 2011;164(5):1145-1146
AIPGENE: augmenting porphobilinogen deaminase expression in the liver as a novel gene therapy for acute intermittent porphyria
Gonzalez-Aseguinolaza G; Fontanellas A; Unzu C; Hermening S; Beattie S; Preusting H; Petry H; Paneda A; Urdaneta M; Ruiz J; Cornet ME; Municio MDM; Henrichson A; Harper P; Alba MM; Moran Jimenez MJ; de Salamanca RE; Kaeppel C; Kirsten R; von Kalle C; Schmidt M; D'Avola D; Sangro B; Troconiz I; Prieto J
Conference publication: BRITISH JOURNAL OF DERMATOLOGY. 2011;164(5):1132-1133
Renal failure affects the enzymatic activities of the three-first steps in hepatic haem biosynthesis in the AIP mouse during a biochemical induced attack
Fontanellas A; Unzu C; Sampedro A; Sardh E; Mauleon I; de Salamanca RE; Prieto J; Salido E; Harper P
Conference publication: JOURNAL OF INHERITED METABOLIC DISEASE. 2011;34:S174
INSULIN DOWNREGULATES ALAS1 EXPRESSION IN HUMAN HEPATOCYTES
Sardh E; Harper P; Wahlin S; Nilsson L-M; Ellis E; Mode A
Conference publication: BRITISH JOURNAL OF DERMATOLOGY. 2011;164(5):1147
Insulin downregulates ALAS1 expression in human hepatocytes
Sardh E; Harper P; Wahlin S; Nilsson L-M; Ellis E; Mode A
Conference publication: BRITISH JOURNAL OF DERMATOLOGY. 2011;164(5):1144
Hepatocyte transplantation ameliorates the metabolic abnormality in a mouse model of acute intermittent porphyria
Wahlin S; Yin Z; Nowak G; Ellis E; Ericzon B-G; Harper P
Conference publication: BRITISH JOURNAL OF DERMATOLOGY. 2011;164(5):1139-1140
Liver transplantation for erythropoietic protoporphyria in Europe
Wahlin S; Stal P; Adam R; Karam V; Porte RJ; Seehofer D; Gunson BK; Hillingso J; Klempnauer JL; Schmidt J; Alexander G; O'Grady J; Clavien P-A; Salizzoni M; Paul A; Rolles K; Ericzon B-G; Harper P
Letter: JOURNAL OF DERMATOLOGICAL SCIENCE. 2011;61(1):75-77
A recurrent mutation in variegate porphyria patients from Chile and Sweden: Evidence for a common genetic background?
van Serooskerken AMVT; Ernst M; Bladergroen RS; Wolff C; Floderus Y; Harper P; Poblete-Gutierrez P; van Geel M; Frank J
Letter: JOURNAL OF INVESTIGATIVE DERMATOLOGY. 2010;130(2):631-633
Skin Ferrochelatase and Photosensitivity in Mice and Man
Wahlin S; Harper P
Letter: BONE MARROW TRANSPLANTATION. 2010;45(2):393-394
The role for BMT in erythropoietic protoporphyria
Wahlin S; Harper P
Conference publication: EXPERIMENTAL DERMATOLOGY. 2008;17(3):246
Identification of a recurrent mutation in variegate porphyria patients from Sweden and Chile:: evidence for an independent novel founder effect
van Serooskerken AVT; Ernst M; Wolff C; Floderus Y; Harper P; van Geel M; Poblete-Gutierrez P; Frank J
Letter: LIVER TRANSPLANTATION. 2007;13(11):1614-1615
Pretransplant albumin dialysis in erythropoietic protoporphyria: A costly detour
Wahlin S; Harper P
Letter: JOURNAL OF INTERNAL MEDICINE. 2005;257(4):393
Iron status and HFE mutations in first-degree relatives of patients with sporadic porphyria cutanea tarda, in a Mediterranean area -: Response
Harper P; Floderus Y; Holmström P; Eggertsen G; Gåfvels M
Letter: JOURNAL OF INTERNAL MEDICINE. 2005;257(4):391
Iron status and HFE mutations in first-degree relatives of patients with sporadic porphyria cutanea tarda, in a Mediterranean area -: Response
Harper P; Floderus Y; Holmström P; Eggertsen G; Gåfvels M
Letter: JOURNAL OF INTERNAL MEDICINE. 2004;255(6):684-688
Enrichment of HFE mutations in Swedish patients with familial and sporadic form of porphyria cutanea tarda
Harper P; Floderus Y; Holmström P; Eggertsen G; Gåfvels M
Review: SCANDINAVIAN JOURNAL OF CLINICAL & LABORATORY INVESTIGATION. 2000;60(7):581-604
Porphyrins, porphyrin metabolism and porphyrias. IV. Pathophysiology of erythyropoietic protoporphyria - diagnosis, care and monitoring of the patient
Thunell S; Harper P; Brun A
Review: SCANDINAVIAN JOURNAL OF CLINICAL & LABORATORY INVESTIGATION. 2000;60(7):561-579
Porphyrins, porphyrin metabolism, porphyrias. III. Diagnosis, care and monitoring in porphyria cutanea tarda - suggestions for a handling programme
Thunell S; Harper P
Review: LAKARTIDNINGEN. 1998;95(28-29):3195-3199
[Porphyria cutanea tarda is the most common type of porphyria. Medical control is a team work].
Harper P; Thunell S; Hultcrantz R; Ros AM; Wennersten G
Review: LAKARTIDNINGEN. 1998;95(26-27):3045-3050
[Prevention of acute intermittent porphyria is the best solution. Most important are early diagnosis and counseling].
Floderus Y; Harper P; Henrichson A; Thunell S; Andersson D
Published conference paper: CELLULAR AND MOLECULAR BIOLOGY. 1997;43(1):1-8
Pathogenic mechanisms of the acute porphyric attack: Speculative roles of manganese associated enzymes
Thunell S; Floderus Y; Harper P; Henrichson A; Lindh U; Marklund S
Review: EUROPEAN JOURNAL OF CLINICAL CHEMISTRY AND CLINICAL BIOCHEMISTRY. 1995;33(4):179-194
MARKERS FOR VULNERABILITY IN ACUTE PORPHYRIA - A HYPOTHESIS PAPER
THUNELL S; ANDERSSON C; CARLMARK B; FLODERUS Y; GRONQVIST SO; HARPER P; HENRICHSON A; LINDH U
Conference publication: CLINICAL CHEMISTRY. 1983;29(6):1174
FAST ANALYSIS OF HBA1C BY ISOELECTRIC-FOCUSING IN POLYACRYLAMIDE AND AGAROSE GELS FOLLOWED BY DIRECT DENSITOMETRY OF THE UNSTAINED BANDS
HARPER P; LIZANA J; CARLSTROM A; OLSSON I
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Docent, klinisk kemi, Karolinska institutet, 2004

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