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Clinical and biological characterization of 20 patients with TANGO2 deficiency indicates novel triggers of metabolic crises and no primary energetic defect.
Bérat, Claire-Marine; Montealegre, Sebastian; Wiedemann, Arnaud; Nuzum, Malou Le Corronc; Blondel, Amélie; Debruge, Hugo; Cano, Aline; Chabrol, Brigitte; Hoebeke, Célia; Polak, Michel; Stoupa, Athanasia; Feillet, François; Torre, Stéphanie; Boddaert, Nathalie; Bruel, Henri; Barth, Magalie; Damaj, Lena; Abi-Wardé, Marie-Thérèse; Afenjar, Alexandra; Benoist, Jean-François; Madrange, Marine; Caccavelli, Laure; Renard, Perrine; Hubas, Arnaud; Nusbaum, Patrick; Pontoizeau, Clément; Gobin, Stéphanie; van Endert, Peter; Ottolenghi, Chris; Maltret, Alice; de Lonlay, Pascale.
Afiliação
  • Bérat CM; Inserm U1151, Institut Necker Enfants-Malades, Paris, France.
  • Montealegre S; Université de Paris, Paris, France.
  • Wiedemann A; Reference Center of inherited Metabolic Diseases, Necker-Enfants-Malades University hospital, APHP, Imagine Institute, Filière G2M, Paris, France.
  • Nuzum MLC; Inserm U1151, Institut Necker Enfants-Malades, Paris, France.
  • Blondel A; Reference Center of inherited Metabolic Diseases, Necker-Enfants-Malades University hospital, APHP, Imagine Institute, Filière G2M, Paris, France.
  • Debruge H; Department of Pediatric Intensive Care, Reference Center of Inherited Metabolic Disorders, INSERM U1256, Nancy Hospital, Nancy, France.
  • Cano A; Inserm U1151, Institut Necker Enfants-Malades, Paris, France.
  • Chabrol B; Department of Biochemistry, Necker-Enfants-Malades University Hospital, APHP, Filière G2M, Paris, France.
  • Hoebeke C; Inserm U1151, Institut Necker Enfants-Malades, Paris, France.
  • Polak M; Reference Center of Inherited Metabolic Disorders, La Timone Hospital, Filière G2M, Marseille, France.
  • Stoupa A; Reference Center of Inherited Metabolic Disorders, La Timone Hospital, Filière G2M, Marseille, France.
  • Feillet F; Reference Center of Inherited Metabolic Disorders, La Timone Hospital, Filière G2M, Marseille, France.
  • Torre S; Université de Paris, Paris, France.
  • Boddaert N; Endocrinology Unit, Reference Center of Rare Endocrine Diseases of Growth and Development, Necker-Enfants-Malades, University hospital, APHP, Imagine Institute, Paris, France.
  • Bruel H; Université de Paris, Paris, France.
  • Barth M; Endocrinology Unit, Reference Center of Rare Endocrine Diseases of Growth and Development, Necker-Enfants-Malades, University hospital, APHP, Imagine Institute, Paris, France.
  • Damaj L; Department of Pediatric Intensive Care, Reference Center of Inherited Metabolic Disorders, INSERM U1256, Nancy Hospital, Nancy, France.
  • Abi-Wardé MT; Competence Center of Inherited Metabolic Disorders, Rouen Hospital, Filière G2M, Rouen, France.
  • Afenjar A; Université de Paris, Paris, France.
  • Benoist JF; Paediatric Radiology Department, Necker-Enfants-Malades University hospital, APHP and INSERM U1163, Imagine Institute, Paris, France.
  • Madrange M; Pediatrics Department, Le Havre Hospital, Le Havre, France.
  • Caccavelli L; Pediatrics Department, Angers Hospital, Angers, France.
  • Renard P; Pediatrics Department, Rennes Hospital, Rennes, France.
  • Hubas A; Pediatrics Department, Strasbourg Hospital, Strasbourg, France.
  • Nusbaum P; Reference Center of Cerebellar Malformations and Congenital Diseases, Trousseau Hospital, APHP, Paris, France.
  • Pontoizeau C; Department of Biochemistry, Necker-Enfants-Malades University Hospital, APHP, Filière G2M, Paris, France.
  • Gobin S; Inserm U1151, Institut Necker Enfants-Malades, Paris, France.
  • van Endert P; Reference Center of inherited Metabolic Diseases, Necker-Enfants-Malades University hospital, APHP, Imagine Institute, Filière G2M, Paris, France.
  • Ottolenghi C; Inserm U1151, Institut Necker Enfants-Malades, Paris, France.
  • Maltret A; Reference Center of inherited Metabolic Diseases, Necker-Enfants-Malades University hospital, APHP, Imagine Institute, Filière G2M, Paris, France.
  • de Lonlay P; Inserm U1151, Institut Necker Enfants-Malades, Paris, France.
J Inherit Metab Dis ; 44(2): 415-425, 2021 03.
Article em En | MEDLINE | ID: mdl-32929747
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Arritmias Cardíacas / Rabdomiólise / Translocador Nuclear Receptor Aril Hidrocarboneto / Transtornos do Neurodesenvolvimento Tipo de estudo: Guideline / Observational_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male País/Região como assunto: Europa Idioma: En Revista: J Inherit Metab Dis Ano de publicação: 2021 Tipo de documento: Article País de afiliação: França País de publicação: Estados Unidos
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Arritmias Cardíacas / Rabdomiólise / Translocador Nuclear Receptor Aril Hidrocarboneto / Transtornos do Neurodesenvolvimento Tipo de estudo: Guideline / Observational_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male País/Região como assunto: Europa Idioma: En Revista: J Inherit Metab Dis Ano de publicação: 2021 Tipo de documento: Article País de afiliação: França País de publicação: Estados Unidos