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Enasidenib treatment in two individuals with D-2-hydroxyglutaric aciduria carrying a germline IDH2 mutation.
Geoerger, Birgit; Schiff, Manuel; Penard-Lacronique, Virginie; Darin, Niklas; Saad, Selim-Maria; Duchon, Clarisse; Lamazière, Antonin; Desmons, Aurore; Pontoizeau, Clément; Berlanga, Pablo; Ducassou, Stéphane; Yen, Katharine; Su, Michael; Schenkein, David; Ottolenghi, Chris; De Botton, Stéphane.
Afiliação
  • Geoerger B; Department of Pediatric and Adolescent Oncology, Gustave Roussy Cancer Campus, Université Paris-Saclay, Villejuif, France. birgit.geoerger@gustaveroussy.fr.
  • Schiff M; INSERM U1015, Gustave Roussy Cancer Campus, Université Paris-Saclay, Villejuif, France. birgit.geoerger@gustaveroussy.fr.
  • Penard-Lacronique V; Reference Center for Inborn Errors of Metabolism, Necker University Hospital, APHP and University of Paris Cité, Paris, France.
  • Darin N; INSERM UMRS 1163, Institut Imagine, Paris, France.
  • Saad SM; INSERM 1170, Université Paris-Saclay, Equipe Labellisée Ligue Nationale Contre le Cancer, member of OPALE Carnot Institute The Organization for Partnerships in Leukemia, Villejuif, France.
  • Duchon C; Department of Pediatrics, Institute of Clinical Sciences, University of Gothenburg and Queen Silvia Children's Hospital at Sahlgrenska University Hospital, Gothenburg, Sweden.
  • Lamazière A; Department of Cardiology, Clinique du Diaconat, Mulhouse, France.
  • Desmons A; Reference Center for Inborn Errors of Metabolism, Necker University Hospital, APHP and University of Paris Cité, Paris, France.
  • Pontoizeau C; Clinical Metabolomic Department, Assistance Publique-Hôpitaux de Paris, Saint Antoine Hospital, Saint-Antoine Research Center, Sorbonne University, Paris, France.
  • Berlanga P; Clinical Metabolomic Department, Assistance Publique-Hôpitaux de Paris, Saint Antoine Hospital, Saint-Antoine Research Center, Sorbonne University, Paris, France.
  • Ducassou S; Reference Center for Inborn Errors of Metabolism, Necker University Hospital, APHP and University of Paris Cité, Paris, France.
  • Yen K; INSERM UMRS 1163, Institut Imagine, Paris, France.
  • Su M; Metabolomics Unit of the Department of Biology, Physiology and Genetics, Necker University Hospital, APHP and University of Paris Cité, Paris, France.
  • Schenkein D; Department of Pediatric and Adolescent Oncology, Gustave Roussy Cancer Campus, Université Paris-Saclay, Villejuif, France.
  • Ottolenghi C; Department of Pediatric Hemato-Oncology, CHU Bordeaux, Bordeaux, France.
  • De Botton S; Agios Pharmaceuticals, Cambridge, MA, USA.
Nat Med ; 29(6): 1358-1363, 2023 Jun.
Article em En | MEDLINE | ID: mdl-37248298
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Isocitrato Desidrogenase / Cardiomiopatias Limite: Child / Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article
Texto completo
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XML
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Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Isocitrato Desidrogenase / Cardiomiopatias Limite: Child / Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article