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Reduced sodium/proton exchanger NHE3 activity causes congenital sodium diarrhea.
Janecke, Andreas R; Heinz-Erian, Peter; Yin, Jianyi; Petersen, Britt-Sabina; Franke, Andre; Lechner, Silvia; Fuchs, Irene; Melancon, Serge; Uhlig, Holm H; Travis, Simon; Marinier, Evelyne; Perisic, Vojislav; Ristic, Nina; Gerner, Patrick; Booth, Ian W; Wedenoja, Satu; Baumgartner, Nadja; Vodopiutz, Julia; Frechette-Duval, Marie-Christine; De Lafollie, Jan; Persad, Rabindranath; Warner, Neil; Tse, C Ming; Sud, Karan; Zachos, Nicholas C; Sarker, Rafiquel; Zhu, Xinjun; Muise, Aleixo M; Zimmer, Klaus-Peter; Witt, Heiko; Zoller, Heinz; Donowitz, Mark; Müller, Thomas.
  • Janecke AR; Department of Pediatrics I, Division of Human Genetics.
  • Heinz-Erian P; Department of Pediatrics I.
  • Yin J; Department of Medicine, Department of Physiology, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.
  • Petersen BS; Institute of Clinical Molecular Biology, Christian-Albrechts-University, Kiel 24105, Germany.
  • Franke A; Institute of Clinical Molecular Biology, Christian-Albrechts-University, Kiel 24105, Germany.
  • Lechner S; Division of Human Genetics.
  • Fuchs I; Department of Pediatrics I.
  • Melancon S; Department of Medical Genetics, McGill University Health Centre, Montreal, Canada H3H 1P3.
  • Uhlig HH; Translational Gastroenterology Unit, Nuffield Department of Medicine, and Children's Hospital, University of Oxford, Oxford OX3 9DU, UK.
  • Travis S; Translational Gastroenterology Unit, Nuffield Department of Medicine, and Children's Hospital, University of Oxford, Oxford OX3 9DU, UK.
  • Marinier E; Service des maladies digestives et respiratoires de l'enfant, Centre de référence des maladies digestives rares, Hôpital R Debré, Paris 75935, France.
  • Perisic V; Department of Hepatology and GI Endoscopy, University Children's Hospital, Belgrade 11000, Serbia.
  • Ristic N; Department of Hepatology and GI Endoscopy, University Children's Hospital, Belgrade 11000, Serbia.
  • Gerner P; Zentrum für Kinder-und Jugendmedizin, Universitätsklinikum, Freiburg 79106, Germany.
  • Booth IW; Paediatrics and Child Health, University of Birmingham, Birmingham B4 6NH, UK.
  • Wedenoja S; Department of Medical Genetics, University of Helsinki, Helsinki 00014, Finland.
  • Baumgartner N; Department of Internal Medicine, Medical University of Innsbruck, Innsbruck 6020, Austria.
  • Vodopiutz J; Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Wien 1090, Austria.
  • Frechette-Duval MC; Department of Pediatrics, Faculty of Medicine, Sherbrooke University, Sherbrooke, Canada J1H 5N4.
  • De Lafollie J; Abteilung Allgemeine Pädiatrie & Neonatologie, Zentrum für Kinderheilkunde und Jugendmedizin, Justus-Liebig-Universität, Gießen 35392, Germany.
  • Persad R; Stollery Children's Hospital, University of Alberta, Edmonton, Canada T6G 2B7.
  • Warner N; SickKids Inflammatory Bowel Disease Center and Cell Biology Program, Research Institute, Hospital for Sick Children, Toronto, ON, Canada M5G 1X8.
  • Tse CM; Department of Medicine, Department of Physiology, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.
  • Sud K; Department of Medicine, Department of Physiology, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.
  • Zachos NC; Department of Medicine, Department of Physiology, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.
  • Sarker R; Department of Medicine, Department of Physiology, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.
  • Zhu X; Department of Medicine, Albany Medical Center, Albany, NY 12208, USA.
  • Muise AM; SickKids Inflammatory Bowel Disease Center and Cell Biology Program, Research Institute, Hospital for Sick Children, Toronto, ON, Canada M5G 1X8, Department of Biochemistry, Department of IMS, Department of Pediatrics, Division of Gastroenterology, Hepatology, and Nutrition, University of Toronto, T
  • Zimmer KP; Abteilung Allgemeine Pädiatrie & Neonatologie, Zentrum für Kinderheilkunde und Jugendmedizin, Justus-Liebig-Universität, Gießen 35392, Germany.
  • Witt H; Pädiatrische Ernährungsmedizin, Else Kröner-Fresenius-Zentrum für Ernährungsmedizin, Technische Universität München, Freising-Weihenstephan 85350, Germany.
  • Zoller H; Department of Internal Medicine, Medical University of Innsbruck, Innsbruck 6020, Austria.
  • Donowitz M; Department of Medicine, Department of Physiology, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.
  • Müller T; Department of Pediatrics I, thomas.mueller@tirol-kliniken.at.
Hum Mol Genet ; 24(23): 6614-23, 2015 Dec 01.
Article en En | MEDLINE | ID: mdl-26358773
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Anomalías Múltiples / Intercambiadores de Sodio-Hidrógeno / Diarrea / Errores Innatos del Metabolismo / Mutación Tipo de estudio: Etiology_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Año: 2015 Tipo del documento: Article
Texto completo
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Anomalías Múltiples / Intercambiadores de Sodio-Hidrógeno / Diarrea / Errores Innatos del Metabolismo / Mutación Tipo de estudio: Etiology_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Año: 2015 Tipo del documento: Article