Clinical and biological characterization of 20 patients with TANGO2 deficiency indicates novel triggers of metabolic crises and no primary energetic defect.

Autor: Bérat CM; Inserm U1151, Institut Necker Enfants-Malades, Paris, France.; Université de Paris, Paris, France.; Reference Center of inherited Metabolic Diseases, Necker-Enfants-Malades University hospital, APHP, Imagine Institute, Filière G2M, Paris, France., Montealegre S; Inserm U1151, Institut Necker Enfants-Malades, Paris, France.; Reference Center of inherited Metabolic Diseases, Necker-Enfants-Malades University hospital, APHP, Imagine Institute, Filière G2M, Paris, France., Wiedemann A; Department of Pediatric Intensive Care, Reference Center of Inherited Metabolic Disorders, INSERM U1256, Nancy Hospital, Nancy, France., Nuzum MLC; Inserm U1151, Institut Necker Enfants-Malades, Paris, France., Blondel A; Department of Biochemistry, Necker-Enfants-Malades University Hospital, APHP, Filière G2M, Paris, France., Debruge H; Inserm U1151, Institut Necker Enfants-Malades, Paris, France., Cano A; Reference Center of Inherited Metabolic Disorders, La Timone Hospital, Filière G2M, Marseille, France., Chabrol B; Reference Center of Inherited Metabolic Disorders, La Timone Hospital, Filière G2M, Marseille, France., Hoebeke C; Reference Center of Inherited Metabolic Disorders, La Timone Hospital, Filière G2M, Marseille, France., Polak M; Université de Paris, Paris, France.; Endocrinology Unit, Reference Center of Rare Endocrine Diseases of Growth and Development, Necker-Enfants-Malades, University hospital, APHP, Imagine Institute, Paris, France., Stoupa A; Université de Paris, Paris, France.; Endocrinology Unit, Reference Center of Rare Endocrine Diseases of Growth and Development, Necker-Enfants-Malades, University hospital, APHP, Imagine Institute, Paris, France., Feillet F; Department of Pediatric Intensive Care, Reference Center of Inherited Metabolic Disorders, INSERM U1256, Nancy Hospital, Nancy, France., Torre S; Competence Center of Inherited Metabolic Disorders, Rouen Hospital, Filière G2M, Rouen, France., Boddaert N; Université de Paris, Paris, France.; Paediatric Radiology Department, Necker-Enfants-Malades University hospital, APHP and INSERM U1163, Imagine Institute, Paris, France., Bruel H; Pediatrics Department, Le Havre Hospital, Le Havre, France., Barth M; Pediatrics Department, Angers Hospital, Angers, France., Damaj L; Pediatrics Department, Rennes Hospital, Rennes, France., Abi-Wardé MT; Pediatrics Department, Strasbourg Hospital, Strasbourg, France., Afenjar A; Reference Center of Cerebellar Malformations and Congenital Diseases, Trousseau Hospital, APHP, Paris, France., Benoist JF; Department of Biochemistry, Necker-Enfants-Malades University Hospital, APHP, Filière G2M, Paris, France., Madrange M; Inserm U1151, Institut Necker Enfants-Malades, Paris, France.; Reference Center of inherited Metabolic Diseases, Necker-Enfants-Malades University hospital, APHP, Imagine Institute, Filière G2M, Paris, France., Caccavelli L; Inserm U1151, Institut Necker Enfants-Malades, Paris, France.; Reference Center of inherited Metabolic Diseases, Necker-Enfants-Malades University hospital, APHP, Imagine Institute, Filière G2M, Paris, France., Renard P; Inserm U1151, Institut Necker Enfants-Malades, Paris, France., Hubas A; Genetics and Molecular Biology, Laboratoire de culture cellulaire, Hôpital Cochin, Paris, France., Nusbaum P; Genetics and Molecular Biology, Laboratoire de culture cellulaire, Hôpital Cochin, Paris, France., Pontoizeau C; Department of Biochemistry, Necker-Enfants-Malades University Hospital, APHP, Filière G2M, Paris, France., Gobin S; Genetics Department, Necker-Enfants-Malades University Hospital, APHP, Paris, France., van Endert P; Inserm U1151, Institut Necker Enfants-Malades, Paris, France.; Université de Paris, Paris, France., Ottolenghi C; Department of Biochemistry, Necker-Enfants-Malades University Hospital, APHP, Filière G2M, Paris, France., Maltret A; Cardiology Unit, Necker-Enfants-Malades University Hospital, APHP, Paris, France., de Lonlay P; Inserm U1151, Institut Necker Enfants-Malades, Paris, France.; Université de Paris, Paris, France.; Reference Center of inherited Metabolic Diseases, Necker-Enfants-Malades University hospital, APHP, Imagine Institute, Filière G2M, Paris, France.

Publikováno v: Journal of inherited metabolic disease [J Inherit Metab Dis] 2021 Mar; Vol. 44 (2), pp. 415-425. Date of Electronic Publication: 2020 Sep 28.