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International Porphyria Molecular Diagnostic Collaborative: an evidence-based database of verified pathogenic and benign variants for the porphyrias.
Chen, Brenden; Whatley, Sharon; Badminton, Michael; Aarsand, Aasne K; Anderson, Karl E; Bissell, D Montgomery; Bonkovsky, Herbert L; Cappellini, Maria D; Floderus, Ylva; Friesema, Edith C H; Gouya, Laurent; Harper, Pauline; Kauppinen, Raili; Loskove, Yonina; Martásek, Pavel; Phillips, John D; Puy, Hervé; Sandberg, Sverre; Schmitt, Caroline; To-Figueras, Jordi; Weiss, Yedidyah; Yasuda, Makiko; Deybach, Jean-Charles; Desnick, Robert J.
Afiliação
  • Chen B; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
  • Whatley S; Institute of Medical Genetics, University Hospital of Wales, Cardiff, UK.
  • Badminton M; Department of Medical Biochemistry and Immunology, University Hospital of Wales, Cardiff, UK.
  • Aarsand AK; Norwegian Porphyria Centre, Department of Medical Biochemistry and Pharmacology, Haukeland University Hospital, Bergen, Norway.
  • Anderson KE; Department of Preventive Medicine and Community Health, University of Texas Medical Branch, Galveston, TX, USA.
  • Bissell DM; Department of Medicine, University of California, San Francisco, CA, USA.
  • Bonkovsky HL; Department of Medicine, Wake Forest University, Winston-Salem, NC, USA.
  • Cappellini MD; Dipartimento di Medicina Interna, Fondazione IRCCS Cà Granda, Ospedale Maggiore Policlinico, Università degli Studi di Milano, Milan, Italy.
  • Floderus Y; Porphyria Centre Sweden, Centre for Inherited Metabolic Diseases, Karolinska Institutet, Karolinska University Hospital, Stockholm, Sweden.
  • Friesema ECH; Porphyria Center Rotterdam, Center for Lysosomal and Metabolic Disorders, Department of Internal Medicine, Erasmus MC, University Medical Center, Rotterdam, The Netherlands.
  • Gouya L; Centre Français des Porphyries, Hôpital Louis Mourier, Assistance Publique-Hôpitaux de Paris, Colombes and Centre de Recherche sur l'Inflammation, UMR1149 INSERM, Université Paris Diderot, Paris, France.
  • Harper P; Porphyria Centre Sweden, Centre for Inherited Metabolic Diseases, Karolinska Institutet, Karolinska University Hospital, Stockholm, Sweden.
  • Kauppinen R; Porphyria Research Unit, Department of Medicine, University Central Hospital of Helsinki, Helsinki, Finland.
  • Loskove Y; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
  • Martásek P; First Faculty of Medicine, Charles University in Prague, Prague, Czech Republic.
  • Phillips JD; Department of Internal Medicine, University of Utah, Salt Lake City, UT, USA.
  • Puy H; Centre Français des Porphyries, Hôpital Louis Mourier, Assistance Publique-Hôpitaux de Paris, Colombes and Centre de Recherche sur l'Inflammation, UMR1149 INSERM, Université Paris Diderot, Paris, France.
  • Sandberg S; Norwegian Porphyria Centre, Department of Medical Biochemistry and Pharmacology, Haukeland University Hospital, Bergen, Norway.
  • Schmitt C; The Norwegian Quality Improvement of Laboratory Examinations (NOKLUS), Haraldsplass Deaconness Hospital, Bergen Medical Faculty, University of Bergen, Bergen, Norway.
  • To-Figueras J; Centre Français des Porphyries, Hôpital Louis Mourier, Assistance Publique-Hôpitaux de Paris, Colombes and Centre de Recherche sur l'Inflammation, UMR1149 INSERM, Université Paris Diderot, Paris, France.
  • Weiss Y; Biochemistry and Molecular Genetics Department, Hospital Clínic, IDIBAPS, University of Barcelona, Barcelona, Spain.
  • Yasuda M; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
  • Deybach JC; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
  • Desnick RJ; Centre Français des Porphyries, Hôpital Louis Mourier, Assistance Publique-Hôpitaux de Paris, Colombes and Centre de Recherche sur l'Inflammation, UMR1149 INSERM, Université Paris Diderot, Paris, France. jc.deybach@me.com.
Genet Med ; 21(11): 2605-2613, 2019 11.
Article em En | MEDLINE | ID: mdl-31073229
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Porfirias / Virulência Tipo de estudo: Diagnostic_studies Limite: Female / Humans / Male País/Região como assunto: America do norte Idioma: En Revista: Genet Med Assunto da revista: GENETICA MEDICA Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Estados Unidos País de publicação: Estados Unidos
Texto completo
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XML
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Porfirias / Virulência Tipo de estudo: Diagnostic_studies Limite: Female / Humans / Male País/Região como assunto: America do norte Idioma: En Revista: Genet Med Assunto da revista: GENETICA MEDICA Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Estados Unidos País de publicação: Estados Unidos