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Defects in KCNJ16 Cause a Novel Tubulopathy with Hypokalemia, Salt Wasting, Disturbed Acid-Base Homeostasis, and Sensorineural Deafness.
Schlingmann, Karl P; Renigunta, Aparna; Hoorn, Ewout J; Forst, Anna-Lena; Renigunta, Vijay; Atanasov, Velko; Mahendran, Sinthura; Barakat, Tahsin Stefan; Gillion, Valentine; Godefroid, Nathalie; Brooks, Alice S; Lugtenberg, Dorien; Lake, Jennifer; Debaix, Huguette; Rudin, Christoph; Knebelmann, Bertrand; Tellier, Stephanie; Rousset-Rouvière, Caroline; Viering, Daan; de Baaij, Jeroen H F; Weber, Stefanie; Palygin, Oleg; Staruschenko, Alexander; Kleta, Robert; Houillier, Pascal; Bockenhauer, Detlef; Devuyst, Olivier; Vargas-Poussou, Rosa; Warth, Richard; Zdebik, Anselm A; Konrad, Martin.
Afiliação
  • Schlingmann KP; Department of General Pediatrics, Pediatric Nephrology, University Children's Hospital, Munster, Germany.
  • Renigunta A; Department of Pediatric Nephrology, Marburg Kidney Research Center, Philipps University, Marburg, Germany.
  • Hoorn EJ; Division of Nephrology and Transplantation, Department of Internal Medicine, Erasmus Medical Center, Rotterdam, The Netherlands.
  • Forst AL; Department of Physiology, Medical Cell Biology, University of Regensburg, Regensburg, Germany.
  • Renigunta V; Department of Neurophysiology, Institute of Physiology and Pathophysiology, Philipps University, Marburg, Germany.
  • Atanasov V; Department of Neuroscience, Physiology and Pharmacology, University College London, London, United Kingdom.
  • Mahendran S; Department of Neuroscience, Physiology and Pharmacology, University College London, London, United Kingdom.
  • Barakat TS; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands.
  • Gillion V; Division of Nephrology, Saint-Luc Academic Hospital, Université Catholique Louvain, Brussels, Belgium.
  • Godefroid N; Division of Pediatric Nephrology, Saint-Luc Academic Hospital, Université Catholique Louvain, Brussels, Belgium.
  • Brooks AS; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands.
  • Lugtenberg D; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Lake J; Department of Physiology, Mechanism of Inherited Kidney Disorders, University of Zurich, Zurich, Switzerland.
  • Debaix H; Department of Physiology, Mechanism of Inherited Kidney Disorders, University of Zurich, Zurich, Switzerland.
  • Rudin C; Department of Pediatric Nephrology, University Children's Hospital, Basel, Switzerland.
  • Knebelmann B; Department of Nephrology-Transplantation, Assistance Publique Hôpitaux de Paris, Hôpital Necker, Paris, France.
  • Tellier S; Reference Center for Hereditary Kidney and Childhood Diseases (MAladies Renales Hereditaires de l'Enfant et de l'Adulte), Paris, France.
  • Rousset-Rouvière C; Department of Pediatric Nephrology, and Rheumatology, French Reference Center of Rare Renal Diseases (SORARE), CHU Toulouse, Toulouse, France.
  • Viering D; Division of Rheumatology, Department of Pediatrics, Centre Hospitalier Universitaire de Toulouse, Toulouse, France.
  • de Baaij JHF; Department of Multidisciplinary Pediatrics, Pediatric Nephrology Unit, La Timone, University Hospital of Marseille, Marseille, France.
  • Weber S; Department of Physiology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Palygin O; Department of Physiology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Staruschenko A; Department of Pediatric Nephrology, Marburg Kidney Research Center, Philipps University, Marburg, Germany.
  • Kleta R; Department of Physiology, Medical College of Wisconsin, Milwaukee, Wisconsin.
  • Houillier P; Department of Physiology, Medical College of Wisconsin, Milwaukee, Wisconsin.
  • Bockenhauer D; Clement J. Zablocki Veterans Affairs Medical Center, Milwaukee, Wisconsin.
  • Devuyst O; Department of Renal Medicine, University College London, London, United Kingdom.
  • Vargas-Poussou R; Department of Paediatric Nephrology, Great Ormond Street Hospital for Children National Health Service Foundation Trust, London, United Kingdom.
  • Warth R; Reference Center for Hereditary Kidney and Childhood Diseases (MAladies Renales Hereditaires de l'Enfant et de l'Adulte), Paris, France.
  • Zdebik AA; Department of Physiology, Assistance Publique Hôpitaux de Paris, Hôpital Européen Georges-Pompidou, Paris, France.
  • Konrad M; Department of Renal Physiology, Centre de Recherche des Cordeliers, Institut National de la Santé et de la Recherche Médicale, Sorbonne Université, Université de Paris, Centre National de la Recherche Scientifique, Paris, France.
J Am Soc Nephrol ; 32(6): 1498-1512, 2021 06 01.
Article em En | MEDLINE | ID: mdl-33811157
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Desequilíbrio Ácido-Base / Canais de Potássio Corretores do Fluxo de Internalização / Perda Auditiva Neurossensorial / Hipopotassemia / Nefropatias Tipo de estudo: Prognostic_studies Limite: Adolescent / Adult / Animals / Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Ano de publicação: 2021 Tipo de documento: Article
Texto completo
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Desequilíbrio Ácido-Base / Canais de Potássio Corretores do Fluxo de Internalização / Perda Auditiva Neurossensorial / Hipopotassemia / Nefropatias Tipo de estudo: Prognostic_studies Limite: Adolescent / Adult / Animals / Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Ano de publicação: 2021 Tipo de documento: Article