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Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2.
Cabezas, Oscar Rubio; Flanagan, Sarah E; Stanescu, Horia; García-Martínez, Elena; Caswell, Richard; Lango-Allen, Hana; Antón-Gamero, Montserrat; Argente, Jesús; Bussell, Anna-Marie; Brandli, Andre; Cheshire, Chris; Crowne, Elizabeth; Dumitriu, Simona; Drynda, Robert; Hamilton-Shield, Julian P; Hayes, Wesley; Hofherr, Alexis; Iancu, Daniela; Issler, Naomi; Jefferies, Craig; Jones, Peter; Johnson, Matthew; Kesselheim, Anne; Klootwijk, Enriko; Koettgen, Michael; Lewis, Wendy; Martos, José María; Mozere, Monika; Norman, Jill; Patel, Vaksha; Parrish, Andrew; Pérez-Cerdá, Celia; Pozo, Jesús; Rahman, Sofia A; Sebire, Neil; Tekman, Mehmet; Turnpenny, Peter D; Hoff, William Van't; Viering, Daan H H M; Weedon, Michael N; Wilson, Patricia; Guay-Woodford, Lisa; Kleta, Robert; Hussain, Khalid; Ellard, Sian; Bockenhauer, Detlef.
Afiliación
  • Cabezas OR; Pediatric Endocrinology, Hospital Infantil Universitario Niño Jesús, Madrid, Spain.
  • Flanagan SE; University of Exeter Medical School, Institute of Biomedical and Clinical Science, Exeter, United Kingdom.
  • Stanescu H; University College London Centre for Nephrology, University College London, London, United Kingdom.
  • García-Martínez E; Pediatric Nephrology, Hospital Universitario Reina Sofía, Córdoba, Spain.
  • Caswell R; University of Exeter Medical School, Institute of Biomedical and Clinical Science, Exeter, United Kingdom.
  • Lango-Allen H; University of Exeter Medical School, Institute of Biomedical and Clinical Science, Exeter, United Kingdom.
  • Antón-Gamero M; Pediatric Nephrology, Hospital Universitario Reina Sofía, Córdoba, Spain.
  • Argente J; Pediatric Endocrinology, Hospital Infantil Universitario Niño Jesús, Madrid, Spain.
  • Bussell AM; Instituto de Investigación La Princesa, Universidad Autónoma de Madrid, Madrid, Spain.
  • Brandli A; Centro de Investigación Biomédica en Red de Fisiopatología de la Obesidad y Nutrición (CIBEROBN), Instituto de Salud Carlos III, Madrid, Spain.
  • Cheshire C; Madrid Institute for Advanced Studies on Food, Comité de Ética de la Investigación de la Universidad Autónoma de Madrid, and Centro Superior de Investigaciones Científicas, Carretera de Cantoblanco 8.28049, Madrid, Spain.
  • Crowne E; University of Exeter Medical School, Institute of Biomedical and Clinical Science, Exeter, United Kingdom.
  • Dumitriu S; Walter-Brendel-Center of Experimental Medicine, Ludwig-Maximilians-University Munich, Munich, Germany.
  • Drynda R; University College London Centre for Nephrology, University College London, London, United Kingdom.
  • Hamilton-Shield JP; University of Bristol and Bristol Royal Hospital for Children, Bristol, United Kingdom.
  • Hayes W; University College London Centre for Nephrology, University College London, London, United Kingdom.
  • Hofherr A; Diabetes Research Group, King's College, London, United Kingdom.
  • Iancu D; University of Bristol and Bristol Royal Hospital for Children, Bristol, United Kingdom.
  • Issler N; Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom.
  • Jefferies C; Renal Division, Department of Medicine, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
  • Jones P; University College London Centre for Nephrology, University College London, London, United Kingdom.
  • Johnson M; University College London Centre for Nephrology, University College London, London, United Kingdom.
  • Kesselheim A; Starship Children's Hospital, Liggins Institute, University of Auckland, Auckland, New Zealand.
  • Klootwijk E; Diabetes Research Group, King's College, London, United Kingdom.
  • Koettgen M; University of Exeter Medical School, Institute of Biomedical and Clinical Science, Exeter, United Kingdom.
  • Lewis W; University College London Centre for Nephrology, University College London, London, United Kingdom.
  • Martos JM; University College London Centre for Nephrology, University College London, London, United Kingdom.
  • Mozere M; Renal Division, Department of Medicine, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
  • Norman J; East of Scotland Genetic Service, Dundee, United Kingdom.
  • Patel V; Pediatric Endocrinology, Hospital Clínico Universitario Virgen de la Arrixaca, Murcia, Spain.
  • Parrish A; University College London Centre for Nephrology, University College London, London, United Kingdom.
  • Pérez-Cerdá C; University College London Centre for Nephrology, University College London, London, United Kingdom.
  • Pozo J; University College London Centre for Nephrology, University College London, London, United Kingdom.
  • Rahman SA; University of Exeter Medical School, Institute of Biomedical and Clinical Science, Exeter, United Kingdom.
  • Sebire N; Centro de Diagnóstico de Enfermedades Moleculares, Universidad Autónoma de Madrid, Center for Biomedical Research in Rare diseases, Instituto de Investigacion Hospital Universitario La Paz, Madrid, Spain.
  • Tekman M; Pediatric Endocrinology, Hospital Infantil Universitario Niño Jesús, Madrid, Spain.
  • Turnpenny PD; University College London Institute of Child Health, London, United Kingdom.
  • Hoff WV; Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom.
  • Viering DHHM; University College London Institute of Child Health, London, United Kingdom.
  • Weedon MN; University College London Centre for Nephrology, University College London, London, United Kingdom.
  • Wilson P; Clinical Genetics, Royal Devon and Exeter NHS Foundation Trust, Exeter, United Kingdom.
  • Guay-Woodford L; Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom.
  • Kleta R; University College London Centre for Nephrology, University College London, London, United Kingdom.
  • Hussain K; University of Exeter Medical School, Institute of Biomedical and Clinical Science, Exeter, United Kingdom.
  • Ellard S; University College London Centre for Nephrology, University College London, London, United Kingdom.
  • Bockenhauer D; Children's National Health System, Washington, DC; and.
J Am Soc Nephrol ; 28(8): 2529-2539, 2017 08.
Article en En | MEDLINE | ID: mdl-28373276
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Regiones Promotoras Genéticas / Fosfotransferasas (Fosfomutasas) / Hiperinsulinismo Congénito / Enfermedades Renales Poliquísticas / Mutación Tipo de estudio: Prognostic_studies Límite: Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Revista: J Am Soc Nephrol Asunto de la revista: NEFROLOGIA Año: 2017 Tipo del documento: Article País de afiliación: España
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Regiones Promotoras Genéticas / Fosfotransferasas (Fosfomutasas) / Hiperinsulinismo Congénito / Enfermedades Renales Poliquísticas / Mutación Tipo de estudio: Prognostic_studies Límite: Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Revista: J Am Soc Nephrol Asunto de la revista: NEFROLOGIA Año: 2017 Tipo del documento: Article País de afiliación: España