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Phosphomannomutase 2 (PMM2) variants leading to hyperinsulinism-polycystic kidney disease are associated with early-onset inflammatory bowel disease and gastric antral foveolar hyperplasia.
Kiparissi, Fevronia; Dastamani, Antonia; Palm, Liina; Azabdaftari, Aline; Campos, Luis; Gaynor, Edward; Grünewald, Stephanie; Uhlig, Holm H; Kleta, Robert; Böckenhauer, Detlef; Jones, Kelsey D J.
Afiliación
  • Kiparissi F; Department of Paediatric Gastroenterology & Nutrition, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
  • Dastamani A; Department of Paediatric Endocrinology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
  • Palm L; Department of Histopathology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
  • Azabdaftari A; Translational Gastroenterology Unit, Nuffield Department of Clinical Medicine, University of Oxford, Oxford, UK.
  • Campos L; Department of Histopathology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
  • Gaynor E; Department of Paediatric Gastroenterology & Nutrition, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
  • Grünewald S; Department of Metabolic Medicine, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
  • Uhlig HH; Translational Gastroenterology Unit, Nuffield Department of Clinical Medicine, University of Oxford, Oxford, UK.
  • Kleta R; Department of Paediatrics and Biomedical Research Centre, University of Oxford, Oxford, UK.
  • Böckenhauer D; Department of Renal Medicine, University College London, London, UK.
  • Jones KDJ; Department of Paediatric Nephrology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
Hum Genet ; 142(5): 697-704, 2023 May.
Article en En | MEDLINE | ID: mdl-36773065
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Enfermedades Inflamatorias del Intestino / Trastornos Congénitos de Glicosilación / Hiperinsulinismo / Enfermedades Renales Poliquísticas Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Humans Idioma: En Revista: Hum Genet Año: 2023 Tipo del documento: Article País de afiliación: Reino Unido
Texto completo
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XML
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Enfermedades Inflamatorias del Intestino / Trastornos Congénitos de Glicosilación / Hiperinsulinismo / Enfermedades Renales Poliquísticas Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Humans Idioma: En Revista: Hum Genet Año: 2023 Tipo del documento: Article País de afiliación: Reino Unido