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The genetic and clinical spectrum of a large cohort of patients with distal renal tubular acidosis.
Palazzo, Viviana; Provenzano, Aldesia; Becherucci, Francesca; Sansavini, Giulia; Mazzinghi, Benedetta; Orlandini, Valerio; Giunti, Laura; Roperto, Rosa Maria; Pantaleo, Marilena; Artuso, Rosangela; Andreucci, Elena; Bargiacchi, Sara; Traficante, Giovanna; Stagi, Stefano; Murer, Luisa; Benetti, Elisa; Emma, Francesco; Giordano, Mario; Rivieri, Francesca; Colussi, Giacomo; Penco, Silvana; Manfredini, Emanuela; Caruso, Maria Rosa; Garavelli, Livia; Andrulli, Simeone; Vergine, Gianluca; Miglietti, Nunzia; Mancini, Elena; Malaventura, Cristina; Percesepe, Antonio; Grosso, Enrico; Materassi, Marco; Romagnani, Paola; Giglio, Sabrina.
  • Palazzo V; Department of Biomedical Experimental and Clinical Sciences "Mario Serio", University of Florence, Florence, Italy.
  • Provenzano A; Department of Biomedical Experimental and Clinical Sciences "Mario Serio", University of Florence, Florence, Italy.
  • Becherucci F; Nephrology and Dialysis Unit, Meyer Children's University Hospital, Florence, Italy.
  • Sansavini G; Nephrology and Dialysis Unit, Meyer Children's University Hospital, Florence, Italy.
  • Mazzinghi B; Nephrology and Dialysis Unit, Meyer Children's University Hospital, Florence, Italy.
  • Orlandini V; Department of Biomedical Experimental and Clinical Sciences "Mario Serio", University of Florence, Florence, Italy.
  • Giunti L; Medical Genetics Unit, Meyer Children's University Hospital, Florence, Italy.
  • Roperto RM; Nephrology and Dialysis Unit, Meyer Children's University Hospital, Florence, Italy.
  • Pantaleo M; Medical Genetics Unit, Meyer Children's University Hospital, Florence, Italy.
  • Artuso R; Medical Genetics Unit, Meyer Children's University Hospital, Florence, Italy.
  • Andreucci E; Medical Genetics Unit, Meyer Children's University Hospital, Florence, Italy.
  • Bargiacchi S; Medical Genetics Unit, Meyer Children's University Hospital, Florence, Italy.
  • Traficante G; Medical Genetics Unit, Meyer Children's University Hospital, Florence, Italy.
  • Stagi S; Endocrinology Unit, Department of Health Sciences, University of Florence, Florence, Italy.
  • Murer L; Pediatric Nephrology Dialysis and Transplant Unit, Department of Pediatrics, University of Padua, Padua, Italy.
  • Benetti E; Pediatric Nephrology Dialysis and Transplant Unit, Department of Pediatrics, University of Padua, Padua, Italy.
  • Emma F; Nephrology Dialysis, Transplant, Bambin Gesù Children's Hospital, Roma, Italy.
  • Giordano M; Pediatric Nephrology and Dialysis Unit, Children's Hospital Giovanni XXIII, Bari, Italy.
  • Rivieri F; Medical Genetic Service, Department of Laboratory, S. Chiara Hospital, Trento, Italy.
  • Colussi G; Division of Nephrology, Dialysis and Renal Transplantation, Niguarda Ca'Granda Hospital, Milan, Italy.
  • Penco S; Medical Genetics Unit, Department of Laboratory Medicine, Niguarda Ca'Granda Hospital, Milan, Italy.
  • Manfredini E; Medical Genetics Unit, Department of Laboratory Medicine, Niguarda Ca'Granda Hospital, Milan, Italy.
  • Caruso MR; Nephrology and Dialysis Unit, Papa Giovanni XXIII Hospital, Bergamo, Italy.
  • Garavelli L; Genetics Unit, Department of Obstetrics and Paediatrics, IRCCS S. Maria Nuova Hospital, Reggio Emilia, Italy.
  • Andrulli S; Department of Nephrology and Dialysis, Alessandro Manzoni Hospital, Lecco, Italy.
  • Vergine G; Pediatric Unit, Ospedale degli Infermi, Rimini, Italy.
  • Miglietti N; Pediatric Unit, Azienda Ospedaliera Spedali Civili, Brescia, Italy.
  • Mancini E; Division of Nephrology, Dialysis and Hypertension, Policlinico S. Orsola-Malpighi, Bologna, Italy.
  • Malaventura C; Department of Medical Sciences, Section of Pediatrics, University of Ferrara, Italy.
  • Percesepe A; Medical Genetics, Department of Clinical and Experimental Medicine, University Hospital of Parma, Italy.
  • Grosso E; Department of Medical Sciences, University of Torino, Turin, Italy.
  • Materassi M; Nephrology and Dialysis Unit, Meyer Children's University Hospital, Florence, Italy.
  • Romagnani P; Department of Biomedical Experimental and Clinical Sciences "Mario Serio", University of Florence, Florence, Italy; Nephrology and Dialysis Unit, Meyer Children's University Hospital, Florence, Italy; Excellence Center DENOTHE, University of Florence, Florence, Italy.
  • Giglio S; Department of Biomedical Experimental and Clinical Sciences "Mario Serio", University of Florence, Florence, Italy; Medical Genetics Unit, Meyer Children's University Hospital, Florence, Italy. Electronic address: s.giglio@meyer.it.
Kidney Int ; 91(5): 1243-1255, 2017 05.
Article en En | MEDLINE | ID: mdl-28233610
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Acidosis Tubular Renal / Proteína 1 de Intercambio de Anión de Eritrocito / ATPasas de Translocación de Protón Vacuolares / Enfermedades Raras / Insuficiencia Renal Crónica Tipo de estudio: Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged Idioma: En Año: 2017 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Search on Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Acidosis Tubular Renal / Proteína 1 de Intercambio de Anión de Eritrocito / ATPasas de Translocación de Protón Vacuolares / Enfermedades Raras / Insuficiencia Renal Crónica Tipo de estudio: Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged Idioma: En Año: 2017 Tipo del documento: Article