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ArticlesPeer ReviewedFull Text
SLC25A32 Mutations and Riboflavin-Responsive Exercise Intolerance
Author / Creator:Schiff, Manuel ; Veauville-Merllié, Alice ; Su, Chen Hsien ; Tzagoloff, Alexander ; Rak, Malgorzata ; Ogier de Baulny, Hélène ; Boutron, Audrey ; Smedts-Walters, Hélène ; Romero, Norma B ; Rigal, Odile ; Rustin, Pierre ; Vianey-Saban, Christine ; Acquaviva-Bourdain, Cécile
Publisher:United States: Massachusetts Medical Society
Journal title:The New England journal of medicine, 2016-02, Vol.374 (8), p.795-797
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The effect of lumasiran therapy for primary hyperoxaluria type 1 in small infants
Author / Creator:Méaux, Marie-Noëlle ; Sellier-Leclerc, Anne-Laure ; Acquaviva-Bourdain, Cécile ; Harambat, Jérôme ; Allard, Lise ; Bacchetta, Justine
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Pediatric nephrology (Berlin, West), 2022-04, Vol.37 (4), p.907-911
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Objective Evaluation of Clinical Actionability for Genes Involved in Myopathies: 63 Genes with a Medical Value for Patient Care
Author / Creator:Vecten, Maude ; Pion, Emmanuelle ; Bartoli, Marc ; Morales, Raul Juntas ; Sternberg, Damien ; Rendu, John ; Stojkovic, Tanya ; Bourdain, Cécile Acquaviva ; Métay, Corinne ; Richard, Isabelle ; Cerino, Mathieu ; Milh, Mathieu ; Campana-Salort, Emmanuelle ; Gorokhova, Svetlana ; Levy, Nicolas ; Latypova, Xénia ; Bonne, Gisèle ; Biancalana, Valérie ; Petit, François ; Molon, Annamaria ; Perrin, Aurélien ; Laforêt, Pascal ; Attarian, Shahram ; Krahn, Martin ; Cossée, Mireille
Publisher:Basel: MDPI AG
Journal title:International journal of molecular sciences, 2022-08, Vol.23 (15), p.8506
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Inflammation-linked adaptations in dermal microvascular reactivity accompany the development of obesity and type 2 diabetes
Author / Creator:Nguyen-Tu, Marie-Sophie ; Nivoit, Pierre ; Oréa, Valérie ; Lemoine, Sandrine ; Acquaviva, Cécile ; Pagnon-Minot, Aurélie ; Fromy, Bérengère ; Sethi, Jaswinder K. ; Sigaudo-Roussel, Dominique
Publisher:London: Nature Publishing Group UK
Journal title:International Journal of Obesity, 2019-03, Vol.43 (3), p.556-566
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Loss of thymidine phosphorylase activity disrupts adipocyte differentiation and induces insulin-resistant lipoatrophic diabetes
Author / Creator:Gautheron, Jérémie ; Lima, Lara ; Akinci, Baris ; Zammouri, Jamila ; Auclair, Martine ; Ucar, Sema Kalkan ; Ozen, Samim ; Altay, Canan ; Bax, Bridget E ; Nemazanyy, Ivan ; Lenoir, Véronique ; Prip-Buus, Carina ; Acquaviva-Bourdain, Cécile ; Lascols, Olivier ; Fève, Bruno ; Vigouroux, Corinne ; Noel, Esther ; Jéru, Isabelle
Publisher:England: BioMed Central Ltd
Journal title:BMC medicine, 2022-03, Vol.20 (1), p.95-95, Article 95
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Primary hyperoxaluria type 1: pathophysiology and genetics
Author / Creator:Fargue, Sonia ; Acquaviva Bourdain, Cécile
Publisher:England: Oxford University Press
Journal title:Clinical kidney journal, 2022-05, Vol.15 (Supplement_1), p.i4-i8
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Primary hyperoxaluria in adults and children: a nationwide cohort highlights a persistent diagnostic delay
Author / Creator:Pszczolinski, Romain ; Acquaviva, Cécile ; Berrahal, Insaf ; Biebuyck, Nathalie ; Burtey, Stéphane ; Clabault, Karine ; Dossier, Claire ; Guillet, Matthieu ; Hemery, Floriane ; Letavernier, Emmanuel ; Rousset-Rouvière, Caroline ; Bacchetta, Justine ; Moulin, Bruno
Publisher:England: Oxford University Press
Journal title:Clinical kidney journal, 2024-05, Vol.17 (5), p.sfae099-sfae099
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Neuropsychological and neuroanatomical phenotype in 17 patients with cystinosis
Author / Creator:Curie, Aurore ; Touil, Nathalie ; Gaillard, Ségolène ; Galanaud, Damien ; Leboucq, Nicolas ; Deschênes, Georges ; Morin, Denis ; Abad, Fanny ; Luauté, Jacques ; Bodenan, Eurielle ; Roche, Laurent ; Acquaviva, Cécile ; Vianey-Saban, Christine ; Cochat, Pierre ; Cotton, François ; Bertholet-Thomas, Aurélia
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2020-02, Vol.15 (1), p.59-59, Article 59
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Genotype–phenotype correlation in primary hyperoxaluria type 1: the p.Gly170Arg AGXT mutation is associated with a better outcome
Author / Creator:Harambat, Jérôme ; Fargue, Sonia ; Acquaviva, Cécile ; Gagnadoux, Marie-France ; Janssen, Françoise ; Liutkus, Aurélia ; Mourani, Chebl ; Macher, Marie-Alice ; Abramowicz, Daniel ; Legendre, Christophe ; Durrbach, Antoine ; Tsimaratos, Michel ; Nivet, Hubert ; Girardin, Eric ; Schott, Anne-Marie ; Rolland, Marie-Odile ; Cochat, Pierre
Publisher:Basingstoke: Elsevier Inc
Journal title:Kidney international, 2010-03, Vol.77 (5), p.443-449
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The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT
Author / Creator:Coughlin, Curtis R. ; Swanson, Michael A. ; Kronquist, Kathryn ; Acquaviva, Cécile ; Hutchin, Tim ; Rodríguez-Pombo, Pilar ; Väisänen, Marja-Leena ; Spector, Elaine ; Creadon-Swindell, Geralyn ; Brás-Goldberg, Ana M. ; Rahikkala, Elisa ; Moilanen, Jukka S. ; Mahieu, Vincent ; Matthijs, Gert ; Bravo-Alonso, Irene ; Pérez-Cerdá, Celia ; Ugarte, Magdalena ; Vianey-Saban, Christine ; Scharer, Gunter H. ; Van Hove, Johan L.K.
Publisher:New York: Elsevier Inc
Journal title:Genetics in medicine, 2017-01, Vol.19 (1), p.104-111
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Antenatal manifestations of inborn errors of metabolism: biological diagnosis
Author / Creator:Vianey-Saban, Christine ; Acquaviva, Cécile ; Cheillan, David ; Collardeau-Frachon, Sophie ; Guibaud, Laurent ; Pagan, Cécile ; Pettazzoni, Magali ; Piraud, Monique ; Lamazière, Antonin ; Froissart, Roseline
Publisher:Dordrecht: Springer Netherlands
Journal title:Journal of inherited metabolic disease, 2016-09, Vol.39 (5), p.611-624
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Data from a large European study indicate that the outcome of primary hyperoxaluria type 1 correlates with the AGXT mutation type
Author / Creator:Mandrile, Giorgia ; van Woerden, Christiaan S. ; Berchialla, Paola ; Beck, Bodo B. ; Acquaviva Bourdain, Cécile ; Hulton, Sally-Anne ; Rumsby, Gill
Publisher:United States: Elsevier Inc
Journal title:Kidney international, 2014-12, Vol.86 (6), p.1197-1204
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Mitochondrial acetoacetyl-CoA thiolase deficiency: basal ganglia impairment may occur independently of ketoacidosis
Author / Creator:Paquay, Stéphanie ; Bourillon, Agnès ; Pichard, Samia ; Benoist, Jean-François ; de Lonlay, Pascale ; Dobbelaere, Dries ; Fouilhoux, Alain ; Guffon, Nathalie ; Rouvet, Isabelle ; Labarthe, François ; Mention, Karine ; Touati, Guy ; Valayannopoulos, Vassili ; Ogier de Baulny, Hélène ; Elmaleh-Bergès, Monique ; Acquaviva-Bourdain, Cécile ; Vianey-Saban, Christine ; Schiff, Manuel
Publisher:Dordrecht: Springer Netherlands
Journal title:Journal of inherited metabolic disease, 2017-05, Vol.40 (3), p.415-422
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A juvenile ALS‐like phenotype dramatically improved after high‐dose riboflavin treatment
Author / Creator:Carreau, Christophe ; Lenglet, Timothée ; Mosnier, Isabelle ; Lahlou, Ghizlene ; Fargeot, Guillaume ; Weiss, Nicolas ; Demeret, Sophie ; Salachas, François ; Veauville‐Merllié, Alice ; Acquaviva, Cécile ; Nadjar, Yann
Publisher:United States: John Wiley & Sons, Inc
Journal title:Annals of clinical and translational neurology, 2020-02, Vol.7 (2), p.250-253
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Adherence to cysteamine in nephropathic cystinosis: A unique electronic monitoring experience for a better understanding. A prospective cohort study: CrYSTobs
Author / Creator:Gaillard, Segolene ; Roche, Laurent ; Lemoine, Sandrine ; Deschênes, Georges ; Morin, Denis ; Vianey-Saban, Christine ; Acquaviva-Bourdain, Cécile ; Ranchin, Bruno ; Bacchetta, Justine ; Kassai, Behrouz ; Nony, Patrice ; Bodénan, Eurielle ; Laudy, Valérie ; Rouges, Cécile ; Zarrabian, Setareh ; Subtil, Fabien ; Mercier, Catherine ; Cochat, Pierre ; Bertholet-Thomas, Aurélia
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Pediatric nephrology (Berlin, West), 2021-03, Vol.36 (3), p.581-589
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Newborn Screening of Primary Carnitine Deficiency: An Overview of Worldwide Practices and Pitfalls to Define an Algorithm before Expansion of Newborn Screening in France
Author / Creator:Lefèvre, Charles R ; Labarthe, François ; Dufour, Diane ; Moreau, Caroline ; Faoucher, Marie ; Rollier, Paul ; Arnoux, Jean-Baptiste ; Tardieu, Marine ; Damaj, Léna ; Bendavid, Claude ; Dessein, Anne-Frédérique ; Acquaviva-Bourdain, Cécile ; Cheillan, David
Publisher:Switzerland: MDPI AG
Journal title:International journal of neonatal screening, 2023-02, Vol.9 (1), p.6
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Complete loss of expression of the ANT1 gene causing cardiomyopathy and myopathy
Author / Creator:Echaniz-Laguna, Andoni ; Chassagne, Maïté ; Ceresuela, Jennifer ; Rouvet, Isabelle ; Padet, Sylvie ; Acquaviva, Cécile ; Nataf, Serge ; Vinzio, Stéphane ; Bozon, Dominique ; Mousson de Camaret, Bénédicte
Publisher:London: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 2012-02, Vol.49 (2), p.146-150
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Primary mitochondrial disorders and mimics: Insights from a large French cohort
Author / Creator:Rouzier, Cécile ; Pion, Emmanuelle ; Chaussenot, Annabelle ; Bris, Céline ; Ait‐El‐Mkadem Saadi, Samira ; Desquiret‐Dumas, Valérie ; Gueguen, Naïg ; Fragaki, Konstantina ; Amati‐Bonneau, Patrizia ; Barcia, Giulia ; Gaignard, Pauline ; Steffann, Julie ; Pennisi, Alessandra ; Bonnefont, Jean‐Paul ; Lebigot, Elise ; Bannwarth, Sylvie ; Francou, Bruno ; Rucheton, Benoit ; Sternberg, Damien ; Martin‐Negrier, Marie‐Laure ; Trimouille, Aurélien ; Hardy, Gaëlle ; Allouche, Stéphane ; Acquaviva‐Bourdain, Cécile ; Pagan, Cécile ; Lebre, Anne‐Sophie ; Reynier, Pascal ; Cossee, Mireille ; Attarian, Shahram ; Paquis‐Flucklinger, Véronique ; Procaccio, Vincent
Publisher:United States: John Wiley & Sons, Inc
Journal title:Annals of clinical and translational neurology, 2024-06, Vol.11 (6), p.1478-1491
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Leukodystrophy with a cerebellar cystic aspect and intracranial atherosclerosis: an atypical presentation of cerebrotendinous xanthomatosis
Author / Creator:Androdias, Géraldine ; Vukusic, Sandra ; Gignoux, Laurence ; Boespflug-Tanguy, Odile ; Acquaviva, Cécile ; Zabot, Marie-Thérèse ; Couvert, Philippe ; Carrie, Alain ; Confavreux, Christian ; Labauge, Pierre
Publisher:Berlin/Heidelberg: Springer-Verlag
Journal title:Journal of neurology, 2012-02, Vol.259 (2), p.364-366
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Prenatal diagnosis of guanidinoacetate methyltransferase deficiency: increased guanidinoacetate concentrations in amniotic fluid
Author / Creator:Cheillan, David ; Salomons, Gajja S ; Acquaviva, Cécile ; Boisson, Catherine ; Roth, Philippe ; Cordier, Marie-Pierre ; François, Laurence ; Jakobs, Cornelis ; Vianey-Saban, Christine
Publisher:England: Oxford University Press
Journal title:Clinical chemistry (Baltimore, Md.), 2006-04, Vol.52 (4), p.775-777
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SLC25A32 Mutations and Riboflavin-Responsive Exercise Intolerance

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The effect of lumasiran therapy for primary hyperoxaluria type 1 in small infants

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Objective Evaluation of Clinical Actionability for Genes Involved in Myopathies: 63 Genes with a Medical Value for Patient Care

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Inflammation-linked adaptations in dermal microvascular reactivity accompany the development of obesity and type 2 diabetes

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Loss of thymidine phosphorylase activity disrupts adipocyte differentiation and induces insulin-resistant lipoatrophic diabetes

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Primary hyperoxaluria type 1: pathophysiology and genetics

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Primary hyperoxaluria in adults and children: a nationwide cohort highlights a persistent diagnostic delay

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Neuropsychological and neuroanatomical phenotype in 17 patients with cystinosis

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Genotype–phenotype correlation in primary hyperoxaluria type 1: the p.Gly170Arg AGXT mutation is associated with a better outcome

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The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT

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Antenatal manifestations of inborn errors of metabolism: biological diagnosis

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Data from a large European study indicate that the outcome of primary hyperoxaluria type 1 correlates with the AGXT mutation type

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Mitochondrial acetoacetyl-CoA thiolase deficiency: basal ganglia impairment may occur independently of ketoacidosis

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A juvenile ALS‐like phenotype dramatically improved after high‐dose riboflavin treatment

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Adherence to cysteamine in nephropathic cystinosis: A unique electronic monitoring experience for a better understanding. A prospective cohort study: CrYSTobs

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Newborn Screening of Primary Carnitine Deficiency: An Overview of Worldwide Practices and Pitfalls to Define an Algorithm before Expansion of Newborn Screening in France

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Complete loss of expression of the ANT1 gene causing cardiomyopathy and myopathy

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Primary mitochondrial disorders and mimics: Insights from a large French cohort

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Leukodystrophy with a cerebellar cystic aspect and intracranial atherosclerosis: an atypical presentation of cerebrotendinous xanthomatosis

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Prenatal diagnosis of guanidinoacetate methyltransferase deficiency: increased guanidinoacetate concentrations in amniotic fluid

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