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Hypoinsulinaemic, hypoketotic hypoglycaemia due to mosaic genetic activation of PI3-kinase.
Leiter, Sarah M; Parker, Victoria E R; Welters, Alena; Knox, Rachel; Rocha, Nuno; Clark, Graeme; Payne, Felicity; Lotta, Luca; Harris, Julie; Guerrero-Fernández, Julio; González-Casado, Isabel; García-Miñaur, Sixto; Gordo, Gema; Wareham, Nick; Martínez-Glez, Víctor; Allison, Michael; O'Rahilly, Stephen; Barroso, Inês; Meissner, Thomas; Davies, Susan; Hussain, Khalid; Temple, Karen; Barreda-Bonis, Ana-Coral; Kummer, Sebastian; Semple, Robert K.
Afiliación
  • Leiter SM; Metabolic Research Laboratories, Wellcome Trust-MRC Institute of Metabolic Science, University of Cambridge, Cambridge, UK.
  • Parker VER; The National Institute for Health Research, Cambridge Biomedical Research Centre, Cambridge, UK.
  • Welters A; Metabolic Research Laboratories, Wellcome Trust-MRC Institute of Metabolic Science, University of Cambridge, Cambridge, UK.
  • Knox R; The National Institute for Health Research, Cambridge Biomedical Research Centre, Cambridge, UK.
  • Rocha N; Department of General Paediatrics, Neonatology and Paediatric Cardiology, University Children's Hospital, Düsseldorf, Germany.
  • Clark G; Metabolic Research Laboratories, Wellcome Trust-MRC Institute of Metabolic Science, University of Cambridge, Cambridge, UK.
  • Payne F; The National Institute for Health Research, Cambridge Biomedical Research Centre, Cambridge, UK.
  • Lotta L; Metabolic Research Laboratories, Wellcome Trust-MRC Institute of Metabolic Science, University of Cambridge, Cambridge, UK.
  • Harris J; The National Institute for Health Research, Cambridge Biomedical Research Centre, Cambridge, UK.
  • Guerrero-Fernández J; Department of Molecular Genetics, Addenbrooke's Hospital, Cambridge, UK.
  • González-Casado I; Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK.
  • García-Miñaur S; MRC Epidemiology Unit, University of Cambridge, Cambridge, UK.
  • Gordo G; Metabolic Research Laboratories, Wellcome Trust-MRC Institute of Metabolic Science, University of Cambridge, Cambridge, UK.
  • Wareham N; The National Institute for Health Research, Cambridge Biomedical Research Centre, Cambridge, UK.
  • Martínez-Glez V; Departments of Paediatric Endocrinology.
  • Allison M; Departments of Paediatric Endocrinology.
  • O'Rahilly S; Departments of Clinical and Molecular Genetics, La Paz Hospital, Madrid, Spain.
  • Barroso I; Departments of Clinical and Molecular Genetics, La Paz Hospital, Madrid, Spain.
  • Meissner T; MRC Epidemiology Unit, University of Cambridge, Cambridge, UK.
  • Davies S; Departments of Clinical and Molecular Genetics, La Paz Hospital, Madrid, Spain.
  • Hussain K; Departments of Hepatology.
  • Temple K; Metabolic Research Laboratories, Wellcome Trust-MRC Institute of Metabolic Science, University of Cambridge, Cambridge, UK.
  • Barreda-Bonis AC; The National Institute for Health Research, Cambridge Biomedical Research Centre, Cambridge, UK.
  • Kummer S; Metabolic Research Laboratories, Wellcome Trust-MRC Institute of Metabolic Science, University of Cambridge, Cambridge, UK.
  • Semple RK; The National Institute for Health Research, Cambridge Biomedical Research Centre, Cambridge, UK.
Eur J Endocrinol ; 177(2): 175-186, 2017 Aug.
Article en En | MEDLINE | ID: mdl-28566443

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Fosfatidilinositol 3-Quinasas / Proteínas Proto-Oncogénicas c-akt / Megalencefalia / Fosfatidilinositol 3-Quinasa Clase I / Hipoglucemia / Insulina / Mosaicismo Tipo de estudio: Diagnostic_studies Límite: Child, preschool / Female / Humans / Male Idioma: En Revista: Eur J Endocrinol Asunto de la revista: ENDOCRINOLOGIA Año: 2017 Tipo del documento: Article País de afiliación: Reino Unido

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Fosfatidilinositol 3-Quinasas / Proteínas Proto-Oncogénicas c-akt / Megalencefalia / Fosfatidilinositol 3-Quinasa Clase I / Hipoglucemia / Insulina / Mosaicismo Tipo de estudio: Diagnostic_studies Límite: Child, preschool / Female / Humans / Male Idioma: En Revista: Eur J Endocrinol Asunto de la revista: ENDOCRINOLOGIA Año: 2017 Tipo del documento: Article País de afiliación: Reino Unido