Cecile Acquaviva-Bourdain

Hum Mutat 2019 10 18;40(10):1826-1840. Epub 2019 Jun 18.

Laboratoire de Génétique Médicale, INSERM U1112, Institut de Génétique Médicale d'Alsace, Université de Strasbourg, Strasbourg, France.

Eur J Hum Genet 2019 03 14;27(3):349-352. Epub 2018 Dec 14.

CHRU Montpellier, Laboratoire de Génétique moléculaire, Montpellier, France.

J Clin Rheumatol 2019 Feb 19. Epub 2019 Feb 19.

Neurology Department, Raymond-Poincaré Teaching Hospital, Centre de référence des Maladies Neuromusculaires Nord/Est/Ile-de-France, AP-HP, Garches.

Blood Cancer J 2018 05 22;8(5):45. Epub 2018 May 22.

Service des Maladies du Sang, FHU GOAL and CRCINA, INSERM, CHU d'Angers, Angers, France.

Biochim Biophys Acta Mol Basis Dis 2017 12 7;1863(12):3294-3302. Epub 2017 Sep 7.

Structural Genomics Consortium, Nuffield Department of Clinical Medicine, University of Oxford, Old Road Campus, Roosevelt Drive, OX3 7DQ Oxford, UK. Electronic address:

Mol Genet Metab 2017 06 30;121(2):111-118. Epub 2017 Mar 30.

Centre de Référence Maladies Héréditaires du Métabolisme de l'Enfant et de l'Adulte, Jeanne de Flandre Hospital, CHRU Lille, and RADEME EA 7364, Faculty of Medicine, University Lille 2, Lille 59037, France. Electronic address:

J Inherit Metab Dis 2017 05 2;40(3):415-422. Epub 2017 Mar 2.

Reference Center for Inborn Errors of Metabolism, Robert Debré University Hospital, 48 Bd Sérurier, Paris, F-75935 Cedex 19, France.

Medicine (Baltimore) 2016 Mar;95(11):e3027

From the Internal Medicine Department, Edouard Herriot Hospital, Lyon (C-AD, BC, JN, M-HG-M, AH); Internal Medicine Department, Côte de Nacre Hospital, Caen (AA, BB, SD); Medicine and Rheumatology Department, Saint-Louis Hospital, La Rochelle (BG); Inborn Errors of Metabolism Laboratory, Civil Hospital of Lyon, Bron (CA-B); Internal Medicine Department, Claude Huriez Hospital, Lille (EH, P-YH); Polyvalent Medicine Department, Cornouaille Hospital Center, Quimper (FL, PH); Autoinflammatory Diseases Medical Unit, Arnaud Villeuneuve Hospital, Montpellier (IT); Nephrology Department, Metropole Savoie Hospital Center, Chambéry (J-BP); Rheumatology Department, Louis Pasteur Hospital, Colmar (LM); Hematology Department, Arras Hospital Center, Arras, France (MB); Internal Medicine Department, Sart Tilman, Liège, Belgique (MM); Dermatology and Allergology Department, Saint-Eloi Hospital, Montpellier (NR-P); Internal Medicine Department, Saint-André Hospital, Bordeaux (PD); Nephrology Department, Lyon Sud Hospital Center, Pierre-Bénite (PT); Hematology Department, Princesse Grace Hospital Center, Monaco (PH); Internal Medicine Department, Saint-Vincent Hospital Center, Strasbourg (RC); Rheumatology Department, Charles Nicole Hospital, Rouen (TL); Department of Pediatrics, Necker-Enfants Malades Hospital, Paris (VB); Diabetology and Internal Medicine Department, Blois Hospital Center, Blois (VL); Internal Medicine Department, Bocage Central, Dijon (SA); Service de Biostatistique, Hospices civiles de Lyon, Université de Lyon 1, Villeurbanne; CNRS, UMR5558, Laboratoire de Biométrie et Biologie Evolutive, Equipe Biostatistique-Santé, Villeurbanne (DM-B); and Department of Biochemical Genetics, Hospital and Institut Cochin, Paris (LC), France.

N Engl J Med 2016 Feb;374(8):795-7

Lyon University Hospital, Lyon, France

Pediatr Nephrol 2015 Oct 14;30(10):1807-13. Epub 2015 May 14.

Service de Pédiatrie, Pôle Femme-Mère-Enfant, Centre Hospitalier Universitaire d'Angers, 4 rue Larrey 49933, Angers Cedex 09, Angers, France,

Mol Genet Metab Rep 2015 Jun 30;3:36-8. Epub 2015 Mar 30.

Reference Center for Inborn Errors of Metabolism, Hôpital Robert Debré, APHP, Paris, France; Department of Child Neurology, Hôpital Robert Debré, APHP, Paris, France; Inserm U1141, Hôpital Robert Debré, Université Paris-Diderot, Sorbonne Paris Cité, Paris, France.

Kidney Int 2014 Dec 2;86(6):1197-204. Epub 2014 Jul 2.

Clinical Biochemistry, UCL Hospitals, London, UK.

Antioxid Redox Signal 2014 Oct 28;21(12):1708-25. Epub 2014 Feb 28.

1 Centro Andaluz de Biología del Desarrollo, Universidad Pablo de Olavide-CSIC-JA , Sevilla, Spain .

Muscle Nerve 2011 Mar;43(3):444-6

Service de Médecine Interne orientée vers les Maladies Orphelines et Systémiques, Centre de Référence des Maladies Héréditaires du Métabolisme, CHU de Nancy-Hôpitaux de Brabois, Vandoeuvre-lès-Nancy, France.

Neuromuscul Disord 2009 May 26;19(5):324-9. Epub 2009 Mar 26.

Centre de Référence de Pathologie Neuromusculaire Paris-Est, Groupe Hospitalier Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Paris, France.

Mol Genet Metab 2006 Nov 5;89(3):210-3. Epub 2006 Jun 5.

Institut für Humangenetik der Universität Göttingen, Heinrich-Düker-Weg 12, 37073 Göttingen, Germany.