Pauline Harper

Pauline Harper

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Pauline Harper

Pauline Harper

Publications by authors named "Pauline Harper"

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Phase 3 Trial of RNAi Therapeutic Givosiran for Acute Intermittent Porphyria.

N Engl J Med 2020 06;382(24):2289-2301

From the Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York (M.B.); Porphyria Center Sweden, Center for Inherited Metabolic Diseases, Karolinska Institutet, Karolinska University Hospital, Stockholm (E.S., P.H., D.V.); the Department of Surgical and Medical Sciences for Children and Adults, Internal Medicine Unit, University of Modena and Reggio Emilia, Modena, Italy (P.V.); Hospital Clínic de Barcelona, Universitat de Barcelona, Barcelona (P.A.P.); King's College London, King's College Hospital, London (D.C.R., P.E.S.); Klinikum Chemnitz, Chemnitz, Germany (U.S.); the Liver Center and Porphyria Center, University of California, San Francisco, San Francisco (D.M.B., B.W.); the Section on Gastroenterology and Hepatology, Wake Forest University-North Carolina Baptist Medical Center, Winston-Salem (H.L.B.); the Department of Hemostatic Disorders and Internal Medicine, Institute of Hematology and Transfusion Medicine, Warsaw, Poland (J.W.); the University of Texas Medical Branch, Galveston (K.E.A.); the University of Utah, Salt Lake City (C. Parker, J.P.); the University of Michigan, Ann Arbor (S.M.S.); the Department of Medicine, Division of Hematology, University of Washington, Seattle (S.B.K.); the Center for Rare Disease and Hemophilia, Taichung Veterans General Hospital, Taichung, Taiwan (J.-D.W.); St. Ivan Rilski University Hospital, Sofia, Bulgaria (A.I.); Porphyria Center Rotterdam, Center for Lysosomal and Metabolic Disease, Department of Internal Medicine, Erasmus Medical Center, University Medical Center Rotterdam, Rotterdam, the Netherlands (J.G.L.); the Department of Medicine, University Hospital of Helsinki, Helsinki, Finland (R.K.); Stadtspital Triemli, Zentrallabor, Zurich, Switzerland (E.M.); Tottori University School of Medicine, Tottori, Japan (Y.H.); Alnylam Pharmaceuticals, Cambridge, MA (C. Penz, J.C., S.L., J.J.K., M.T.S., P.G., A.V., J.B.K., A.R.S.); and the University of Paris and the Laboratory of Excellence GR-Ex, Paris, and Centre de Référence Maladies Rares Porphyries, Assistance Publique-Hôpitaux de Paris, Colombes - all in France (L.G.).

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http://dx.doi.org/10.1056/NEJMoa1913147DOI Listing
June 2020

Phase 1 Trial of an RNA Interference Therapy for Acute Intermittent Porphyria.

N Engl J Med 2019 02;380(6):549-558

From the Porphyria Centre Sweden, Karolinska Institutet, Karolinska University Hospital, Stockholm (E.S., P.H., D.V.); Icahn School of Medicine at Mount Sinai, New York (M.B., R.D.); King's College Hospital, London (P.S., D.R.); University of California, San Francisco, San Francisco (D.M.B.); University of Utah, Salt Lake City (C. Parker, J.P.); Wake Forest University, Winston-Salem, NC (H.L.B.); Alnylam Pharmaceuticals, Cambridge, MA (C. Penz, A.C.-D., Q.H., W.Q., K.F., J.B.K., P.G., A.V., A.R.S.); and the University of Texas Medical Branch at Galveston, Galveston (K.E.A.).

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http://dx.doi.org/10.1056/NEJMoa1807838DOI Listing
February 2019

Tackling Health Inequities and Reducing Obesity Prevalence: The EPODE Community-Based Approach.

Ann Nutr Metab 2016 16;68 Suppl 2:35-8. Epub 2016 Jun 16.

EPHE Coordination, Paris, France.

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http://dx.doi.org/10.1159/000446223DOI Listing
November 2017

Phase I open label liver-directed gene therapy clinical trial for acute intermittent porphyria.

J Hepatol 2016 10 17;65(4):776-783. Epub 2016 May 17.

Instituto de Investigación Sanitaria de Navarra (IdiSNA), Calle Irunlarrea 3, Pamplona 31008, Spain; Gene therapy and regulation of Gene Expression Program, Centro de Investigación Médica Aplicada, Universidad de Navarra, Avda. Pio XII 55, Pamplona 31008, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.jhep.2016.05.012DOI Listing
October 2016

Vitamin D-binding protein as a biomarker of active disease in acute intermittent porphyria.

J Proteomics 2015 Sep 13;127(Pt B):377-85. Epub 2015 May 13.

Hepatology Area, Centre for Applied Medical Research, University of Navarra, Spain; CIBEREHD, University Clinic Navarra, Instituto de Salud Carlos III, Pamplona, Spain; Instituto de Investigación Sanitaria de Navarra (IdiSNA), Pamplona, Spain. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S18743919153000
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http://dx.doi.org/10.1016/j.jprot.2015.05.004DOI Listing
September 2015

Hepatocyte transplantation ameliorates the metabolic abnormality in a mouse model of acute intermittent porphyria.

Cell Transplant 2014 ;23(9):1153-62

Division of Transplantation Surgery, Department for Clinical Science, Intervention and Technology CLINTEC, Karolinska University Hospital, Stockholm, Sweden.

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http://dx.doi.org/10.3727/096368913X666980DOI Listing
May 2015

Hydration and obesity prevention.

Obes Facts 2014 4;7 Suppl 2:37-48. Epub 2014 Apr 4.

EPODE European Network Coordinating Team, Proteines, Paris, France.

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http://dx.doi.org/10.1159/000360748DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5646205PMC
January 2015

High risk of primary liver cancer in a cohort of 179 patients with Acute Hepatic Porphyria.

J Inherit Metab Dis 2013 Nov 23;36(6):1063-71. Epub 2013 Jan 23.

Department of Internal Medicine, Karolinska Institutet, Stockholm South Hospital, 11883, Stockholm, Sweden,

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http://dx.doi.org/10.1007/s10545-012-9576-9DOI Listing
November 2013

The incidence of inherited porphyrias in Europe.

J Inherit Metab Dis 2013 Sep 1;36(5):849-57. Epub 2012 Nov 1.

Department of Medical Biochemistry and Immunology, University Hospital of Wales, Cardiff, CF14 4XW, UK.

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http://dx.doi.org/10.1007/s10545-012-9544-4DOI Listing
September 2013

Partial protoporphyrinogen oxidase (PPOX) gene deletions, due to different Alu-mediated mechanisms, identified by MLPA analysis in patients with variegate porphyria.

Orphanet J Rare Dis 2013 Jan 16;8:13. Epub 2013 Jan 16.

Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden.

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http://dx.doi.org/10.1186/1750-1172-8-13DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3554555PMC
January 2013

Combined liver and kidney transplantation in acute intermittent porphyria.

Transpl Int 2010 Jun 16;23(6):e18-21. Epub 2009 Dec 16.

Department of Gastroenterology and Hepatology, Karolinska Institutet, Karolinska University Hospital, Stockholm, Sweden.

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http://dx.doi.org/10.1111/j.1432-2277.2009.01035.xDOI Listing
June 2010

Skin ferrochelatase and photosensitivity in mice and man.

J Invest Dermatol 2010 Feb 6;130(2):631-3. Epub 2009 Aug 6.

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http://dx.doi.org/10.1038/jid.2009.246DOI Listing
February 2010

Plasma porphobilinogen as a sensitive biomarker to monitor the clinical and therapeutic course of acute intermittent porphyria attacks.

Eur J Intern Med 2009 Mar 8;20(2):201-7. Epub 2008 Aug 8.

Department of Internal Medicine, Karolinska Institutet, Stockholm Söder Hospital, Sweden.

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http://dx.doi.org/10.1016/j.ejim.2008.06.012DOI Listing
March 2009

Protection from phototoxic injury during surgery and endoscopy in erythropoietic protoporphyria.

Liver Transpl 2008 Sep;14(9):1340-6

Department of Gastroenterology and Hepatology, Porphyria Centre Sweden, Karolinska Institutet, Karolinska University Hospital, Stockholm, Sweden.

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http://dx.doi.org/10.1002/lt.21527DOI Listing
September 2008

Treatment options in acute porphyria, porphyria cutanea tarda, and erythropoietic protoporphyria.

Curr Treat Options Gastroenterol 2007 Dec;10(6):444-55

Pauline Harper, MD, PhD Porphyria Centre Sweden, Department of Laboratory Medicine, Karolinska Institutet, Karolinska University Hospital, Stockholm SE-141 86, Sweden.

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http://dx.doi.org/10.1007/s11938-007-0044-9DOI Listing
December 2007

Pretransplant albumin dialysis in erythropoietic protoporphyria: a costly detour.

Liver Transpl 2007 Nov;13(11):1614-5

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http://dx.doi.org/10.1002/lt.21259DOI Listing
November 2007

Curative bone marrow transplantation in erythropoietic protoporphyria after reversal of severe cholestasis.

J Hepatol 2007 Jan 3;46(1):174-9. Epub 2006 Nov 3.

Department of Gastroenterology and Hepatology, Karolinska Institutet, Karolinska University Hospital Huddinge, Stockholm, Sweden.

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http://dx.doi.org/10.1016/j.jhep.2006.10.004DOI Listing
January 2007

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.

Clin Chem 2006 Apr 23;52(4):701-7. Epub 2006 Feb 23.

Porphyria Centre Sweden, Department of Laboratory Medicine, Karolinska Institute, Karolinska University Hospital, Stockholm, Sweden.

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http://dx.doi.org/10.1373/clinchem.2005.058198DOI Listing
April 2006

Lead poisoning from souvenir earthenware.

Int Arch Occup Environ Health 2006 Feb 11;79(2):165-8. Epub 2005 Oct 11.

Karolinska Institutet, Department of Medicine, Division of Hematology, Karolinska University Hospital, Huddinge, 141 86, Stockholm, Sweden.

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http://dx.doi.org/10.1007/s00420-005-0037-8DOI Listing
February 2006

The prevalence of hepatitis C in patients with porphyria cutanea tarda in Stockholm, Sweden.

Acta Derm Venereol 2005 ;85(2):164-6

Department of Dermatology, Karolinska Institute at Stockholm Söder Hospital, SE118 83 Stockholm, Sweden.

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http://dx.doi.org/10.1080/00015550410023518DOI Listing
July 2005

Biochemical characterization of porphobilinogen deaminase-deficient mice during phenobarbital induction of heme synthesis and the effect of enzyme replacement.

Mol Med 2003 Sep-Dec;9(9-12):193-9

Porphyria Centre Sweden, Department of Laboratory Medicine, Division of Clinical Chemistry, Karolinska Institute, Karolinska University Hospital, Stockholm, Sweden.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1430985PMC
http://dx.doi.org/10.2119/2004-00002.johanssonDOI Listing
January 2005

Adenoviral-mediated expression of porphobilinogen deaminase in liver restores the metabolic defect in a mouse model of acute intermittent porphyria.

Mol Ther 2004 Aug;10(2):337-43

Porphyria Centre Sweden, Division of Clinical Chemistry, Department of Laboratory Medicine, Karolinska University Hospital, Huddinge, 141 86 Stockholm, Sweden.

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http://dx.doi.org/10.1016/j.ymthe.2004.05.018DOI Listing
August 2004

Non-viral delivery of the porphobilinogen deaminase cDNA into a mouse model of acute intermittent porphyria.

Mol Genet Metab 2004 May;82(1):20-6

Porphyria Centre Sweden, Division of Clinical Chemistry, Department of Laboratory Medicine, Karolinska University Hospital, Huddinge, Stockholm 141 86, Sweden.

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http://linkinghub.elsevier.com/retrieve/pii/S109671920400066
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http://dx.doi.org/10.1016/j.ymgme.2004.02.008DOI Listing
May 2004

Correction of the biochemical defect in porphobilinogen deaminase deficient cells by non-viral gene delivery.

Mol Cell Biochem 2003 Aug;250(1-2):65-71

Porphyria Centre Sweden, Department of Medical Laboratory Sciences and Technology, Division of Clinical Chemistry, Karolinska Institute, Huddinge University Hospital, Stockholm, Sweden.

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http://dx.doi.org/10.1023/a:1024946216776DOI Listing
August 2003

Novel mutations and phenotypic effect of the splice site modulator IVS3-48C in nine Swedish families with erythropoietic protoporphyria.

J Hum Genet 2003 ;48(2):70-6

Porphyria Centre Sweden, C2-71, Department of Medical Laboratory Sciences and Technology, Division of Clinical Chemistry, Karolinska Institute, Huddinge University Hospital, Stockholm SE-141 86, Sweden.

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http://dx.doi.org/10.1007/s100380300009DOI Listing
March 2003

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.

J Hum Genet 2002 ;47(8):407-12

Porphyria Centre Sweden, C2-71, Department of Medical Laboratory Sciences and Technology, Division of Clinical Chemistry, Karolinska Institute, Huddinge University Hospital, SE-141 86 Stockholm, Sweden.

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http://dx.doi.org/10.1007/s100380200059DOI Listing
October 2002