Cecile Acquaviva-Bourdain

Cecile Acquaviva-Bourdain

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Cecile Acquaviva-Bourdain

Cecile Acquaviva-Bourdain

Publications by authors named "Cecile Acquaviva-Bourdain"

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Mutations in KARS cause a severe neurological and neurosensory disease with optic neuropathy.

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.

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http://dx.doi.org/10.1002/humu.23799DOI Listing
October 2019

Late Onset Multiple Acyl-CoA Dehydrogenase Deficiency (MADD) Myopathy Misdiagnosed as Polymyositis.

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.

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http://dx.doi.org/10.1097/RHU.0000000000001000DOI Listing
February 2019

Novel patient missense mutations in the HSD17B10 gene affect dehydrogenase and mitochondrial tRNA modification functions of the encoded protein.

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:

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http://dx.doi.org/10.1016/j.bbadis.2017.09.002DOI Listing
December 2017

Coupled brain and urine spectroscopy - in vivo metabolomic characterization of HMG-CoA lyase deficiency in 5 patients.

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:

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http://dx.doi.org/10.1016/j.ymgme.2017.03.006DOI Listing
June 2017

Observational Study of a French and Belgian Multicenter Cohort of 23 Patients Diagnosed in Adulthood With Mevalonate Kinase Deficiency.

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.

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http://dx.doi.org/10.1097/MD.0000000000003027DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4839898PMC
March 2016

Renal function can be impaired in children with primary hyperoxaluria type 3.

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,

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http://dx.doi.org/10.1007/s00467-015-3090-xDOI Listing
October 2015

Angelman syndrome and isovaleric acidemia: What is the link?

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.

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http://dx.doi.org/10.1016/j.ymgmr.2015.03.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4750580PMC
June 2015

Subacute myopathy in a mature patient due to multiple acyl-coenzyme A dehydrogenase deficiency.

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.

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http://dx.doi.org/10.1002/mus.21881DOI Listing
March 2011

A novel MOCS2 mutation reveals coordinated expression of the small and large subunit of molybdopterin synthase.

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.

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http://linkinghub.elsevier.com/retrieve/pii/S109671920600143
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http://dx.doi.org/10.1016/j.ymgme.2006.04.008DOI Listing
November 2006