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Autosomal-Recessive Mutations in SLC34A1 Encoding Sodium-Phosphate Cotransporter 2A Cause Idiopathic Infantile Hypercalcemia.
Schlingmann, Karl P; Ruminska, Justyna; Kaufmann, Martin; Dursun, Ismail; Patti, Monica; Kranz, Birgitta; Pronicka, Ewa; Ciara, Elzbieta; Akcay, Teoman; Bulus, Derya; Cornelissen, Elisabeth A M; Gawlik, Aneta; Sikora, Przemyslaw; Patzer, Ludwig; Galiano, Matthias; Boyadzhiev, Veselin; Dumic, Miroslav; Vivante, Asaf; Kleta, Robert; Dekel, Benjamin; Levtchenko, Elena; Bindels, René J; Rust, Stephan; Forster, Ian C; Hernando, Nati; Jones, Glenville; Wagner, Carsten A; Konrad, Martin.
Afiliação
  • Schlingmann KP; Department of General Pediatrics, University Children's Hospital, Münster, Germany;
  • Ruminska J; Institute of Physiology and Zurich Center for Integrative Human Physiology (ZIHP), University of Zurich, Zurich, Switzerland;
  • Kaufmann M; Department of Biomedical and Molecular Sciences, Queen's University, Kingston, Ontario, Canada;
  • Dursun I; Department of General Pediatrics, University Children's Hospital, Münster, Germany; Department of Pediatrics, Kayseri University, Kayseri, Turkey;
  • Patti M; Institute of Physiology and Zurich Center for Integrative Human Physiology (ZIHP), University of Zurich, Zurich, Switzerland;
  • Kranz B; Department of General Pediatrics, University Children's Hospital, Münster, Germany;
  • Pronicka E; Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland;
  • Ciara E; Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland;
  • Akcay T; Department of Pediatrics, Division of Pediatric Endocrinology, Marmara University, Istanbul, Turkey;
  • Bulus D; Department of Pediatric Endocrinology, Keçiören Research and Educational Hospital, Ankara, Turkey;
  • Cornelissen EA; Pediatric Nephrology, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands;
  • Gawlik A; Department of Pediatrics, Medical University of Silesia, Katowice, Poland;
  • Sikora P; Department of Pediatric Nephrology, Medical University of Lublin, Lublin, Poland;
  • Patzer L; Children's Hospital St. Elisabeth and St. Barbara, Halle/Saale, Germany;
  • Galiano M; Department of Pediatrics, Friedrich-Alexander-University, Erlangen, Germany;
  • Boyadzhiev V; Department of Pediatrics, University Hospital St. Marina, Varna Medical University, Varna, Bulgaria;
  • Dumic M; Department of Pediatrics, University Hospital Center, Zagreb, Croatia;
  • Vivante A; Sheba Medical Center, Tel Aviv, Israel;
  • Kleta R; University College London, London, United Kingdom;
  • Dekel B; Sheba Medical Center, Tel Aviv, Israel;
  • Levtchenko E; Department of Pediatric Nephrology, University Hospitals Leuven, Leuven, Belgium;
  • Bindels RJ; Department of Physiology, Radboud University Medical Center, Nijmegen, The Netherlands; and.
  • Rust S; Department of General Pediatrics, University Children's Hospital, Münster, Germany;
  • Forster IC; Institute of Physiology and Zurich Center for Integrative Human Physiology (ZIHP), University of Zurich, Zurich, Switzerland;
  • Hernando N; Institute of Physiology and Zurich Center for Integrative Human Physiology (ZIHP), University of Zurich, Zurich, Switzerland;
  • Jones G; Department of Biomedical and Molecular Sciences, Queen's University, Kingston, Ontario, Canada; Department of Medicine, Queen's University, Kingston, Ontario, Canada.
  • Wagner CA; Institute of Physiology and Zurich Center for Integrative Human Physiology (ZIHP), University of Zurich, Zurich, Switzerland;
  • Konrad M; Department of General Pediatrics, University Children's Hospital, Münster, Germany; konradma@uni-muenster.de.
J Am Soc Nephrol ; 27(2): 604-14, 2016 Feb.
Article em En | MEDLINE | ID: mdl-26047794
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas Cotransportadoras de Sódio-Fosfato / Proteínas Cotransportadoras de Sódio-Fosfato Tipo IIa / Hipercalcemia / Doenças do Recém-Nascido / Erros Inatos do Metabolismo / Mutação Tipo de estudo: Prognostic_studies Limite: Animals / Humans / Infant / Newborn Idioma: En Ano de publicação: 2016 Tipo de documento: Article
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas Cotransportadoras de Sódio-Fosfato / Proteínas Cotransportadoras de Sódio-Fosfato Tipo IIa / Hipercalcemia / Doenças do Recém-Nascido / Erros Inatos do Metabolismo / Mutação Tipo de estudo: Prognostic_studies Limite: Animals / Humans / Infant / Newborn Idioma: En Ano de publicação: 2016 Tipo de documento: Article