Cecile Acquaviva-Bourdain

Affiliations

Laboratory Biochemistry and Molecular Biology, Inborn Errors of Metabolism Unit, Hospices Civils de Lyon, Centre de Biologie Est, 69500, Bron, France.

Publications (23)

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

Pediatric nephrology (Berlin, Germany)

Avec: Marie-Noëlle Méaux , Anne-Laure Sellier-Leclerc , Cécile Acquaviva-Bourdain , Jérôme Harambat , Lise Allard , Justine Bacchetta

Unveiling atypical diagnoses: when whole-genome analysis performed for refractory infantile hypomagnesemia reveals primary hyperoxaluria.

Pediatric nephrology (Berlin, Germany)

Avec: Dima Kayal , Enzo Vedrine , Claire Goursaud , Anne-Laure Sellier-Leclerc , Cécile Acquaviva-Bourdain , Aurelia Bertholet-Thomas , Justine Bacchetta

Therapie

Avec: Ségolène Gaillard , Laurent Roche , Georges Deschênes , Denis Morin , Christine Vianey-Saban , Cécile Acquaviva-Bourdain , Patrice Nony , Fabien Subtil , Catherine Mercier , Pierre Cochat , Aurélia Bertholet-Thomas , Catherine Cornu , Behrouz Kassai

Plasma oxalate: comparison of methodologies.

Urolithiasis

Avec: Felicity Stokes , Cecile Acquaviva-Bourdain , Bernd Hoppe , John C Lieske , Elisabeth Lindner , Greg Toulson , Frédéric M Vaz , Gill Rumsby

Late-onset riboflavin transporter deficiency: a treatable mimic of various motor neuropathy aetiologies.

Journal of neurology, neurosurgery, and psychiatry

Avec: Christophe Carreau , Charline Benoit , Guido Ahle , Cécile Cauquil , Agathe Roubertie , Timothée Lenglet , Jeremy Cosgrove , Isabelle Meunier , Alice Veauville-Merllié , Cécile Acquaviva-Bourdain , Yann Nadjar

[Recommendations for acylcarnitine profile analysis].

Annales de biologie clinique

Avec: Marie Nowoczyn , Cécile Acquaviva-Bourdain , Christelle Corne , Régine Minet-Quinard , Laetitia Van Noolen , Roselyne Garnotel , Anne-Frédérique Dessein

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

Human mutation

Avec: Sophie Scheidecker , Séverine Bär , Corinne Stoetzel , Véronique Geoffroy , Béatrice Lannes , Bruno Rinaldi , Frédéric Fischer , Hubert D Becker , Valérie Pelletier , Cécile Pagan , Cécile Acquaviva-Bourdain , Stéphane Kremer , Marc Mirande , Christine Tranchant , Jean Muller , Sylvie Friant , Hélène Dollfus

Bone Disease in Nephropathic Cystinosis: Beyond Renal Osteodystrophy.

International journal of molecular sciences

Avec: Irma Machuca-Gayet , Thomas Quinaux , Aurélia Bertholet-Thomas , Ségolène Gaillard , Débora Claramunt-Taberner , Cécile Acquaviva-Bourdain , Justine Bacchetta

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

BMC medicine

Avec: Jérémie Gautheron , Lara Lima , Baris Akinci , Jamila Zammouri , Martine Auclair , Sema Kalkan Ucar , Samim Ozen , Canan Altay , Bridget E Bax , Ivan Nemazanyy , Véronique Lenoir , Carina Prip-Buus , Cécile Acquaviva-Bourdain , Olivier Lascols , Bruno Fève , Corinne Vigouroux , Esther Noel , Isabelle Jéru

Nephrocalcinosis can disappear in infants receiving early lumasiran therapy.

Pediatric nephrology (Berlin, Germany)

Avec: Dima Kayal , Anne-Laure Sellier-Leclerc , Cécile Acquaviva-Bourdain , Aurélie de Mul , Sarah Cabet , Justine Bacchetta

Severe neuromuscular forms of glycogen storage disease type IV: Histological, clinical, biochemical, and molecular findings in a large French case series.

Journal of inherited metabolic disease

Avec: Charles R Lefèvre , Sophie Collardeau-Frachon , Nathalie Streichenberger , Sophie Berenguer-Martin , Alix Clémenson , Jérôme Massardier , Fabienne Prieur , Hélène Laurichesse , Fanny Laffargue , Cécile Acquaviva-Bourdain , Roseline Froissart , Magali Pettazzoni

[Recommendations for urinary organic acids analysis].

Annales de biologie clinique

Avec: Laetitia Van Noolen , Cécile Acquaviva-Bourdain , Anne-Frédérique Dessein , Régine Minet-Quinard , Marie Nowoczyn , Roselyne Garnotel , Christelle Corne

[Recommendations for aminoacids chromatography analysis].

Annales de biologie clinique

Avec: Alice Veauville , Cécile Acquaviva-Bourdain , Marie Nowoczyn , Marie-Hélène Read , Christelle Corne , Anne-Frédérique Dessein , Laetitia Van Noolen , Roselyne Garnotel , Régine Minet-Quinard

Myogenic Disease and Metabolic Acidosis: Consider Multiple Acyl-Coenzyme A Dehydrogenase Deficiency.

Case reports in critical care

Avec: A Dernoncourt , J Bouchereau , C Acquaviva-Bourdain , C Wicker , P De Lonlay , C Gourguechon , H Sevestre , P-E Merle , J Maizel , C Brault

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

Pediatric nephrology (Berlin, Germany)

Avec: Segolene Gaillard , Laurent Roche , Sandrine Lemoine , Georges Deschênes , Denis Morin , Christine Vianey-Saban , Cécile Acquaviva-Bourdain , Bruno Ranchin , Justine Bacchetta , Behrouz Kassai , Patrice Nony , Eurielle Bodénan , Valérie Laudy , Cécile Rouges , Setareh Zarrabian , Fabien Subtil , Catherine Mercier , Pierre Cochat , Aurélia Bertholet-Thomas

Metabolomic profiles of 38 acylcarnitines in major depressive episodes before and after treatment.

Psychological medicine

Avec: Abd El Kader Ait Tayeb , Romain Colle , Kenneth Chappell , Khalil El-Asmar , Cécile Acquaviva-Bourdain , Denis J David , Séverine Trabado , Philippe Chanson , Bruno Feve , Laurent Becquemont , Céline Verstuyft , Emmanuelle Corruble

Standardized emergency protocols to improve the management of patients with suspected or confirmed inherited metabolic disorders (IMDs): An initiative of the French IMDs Healthcare Network for Rare Diseases.

Molecular genetics and metabolism

Avec: Juliette Bouchereau , Camille Wicker , Karine Mention , Clothilde Marbach , Jeremy Do Cao , Claire-Marine Berat , Marianne Jaroussie , Aline Cano , Magali Gorce , Alexa Garros , Alice Kuster , Célia Hoebeke , Claire Mayer , Anaïs Brassier , Laurent Gouya , Cécile Schrimpf , Jean-Baptiste Arnoux , Manuel Schiff , Cécile Acquaviva-Bourdain , Jean-François Benoist , Sandy Courapied , Pierre Broué , Mehdi Oualha , Claire Douillard , Pascale de Lonlay

A National French consensus on gene lists for the diagnosis of myopathies using next-generation sequencing.

European journal of human genetics : EJHG

Avec: Martin Krahn , Valérie Biancalana , Mathieu Cerino , Aurélien Perrin , Laurence Michel-Calemard , Juliette Nectoux , France Leturcq , Céline Bouchet-Séraphin , Cécile Acquaviva-Bourdain , Emmanuelle Campana-Salort , Annamaria Molon , Jon Andoni Urtizberea , Frédérique Audic , Brigitte Chabrol , Jean Pouget , Roseline Froissart , Judith Melki , John Rendu , François Petit , Corinne Métay , Nathalie Seta , Damien Sternberg , Julien Fauré , Mireille Cossée

Plasma acetyl-l-carnitine and l-carnitine in major depressive episodes: a case-control study before and after treatment.

Psychological medicine

Avec: Abd El Kader Ait Tayeb , Romain Colle , Khalil El-Asmar , Kenneth Chappell , Cécile Acquaviva-Bourdain , Denis J David , Séverine Trabado , Philippe Chanson , Bruno Feve , Laurent Becquemont , Céline Verstuyft , Emmanuelle Corruble

Oxalate: from physiology to pathology

Nephrologie & therapeutique

Avec: Christophe Grocholski , Laurence Derain Dubourg , Fitsum Guebre-Egziabher , Cécile Acquaviva-Bourdain , Nadia Abid , Justine Bacchetta , Cécile Chambrier , Sandrine Lemoine

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

International journal of neonatal screening

Avec: Charles R Lefèvre , François Labarthe , Diane Dufour , Caroline Moreau , Marie Faoucher , Paul Rollier , Jean-Baptiste Arnoux , Marine Tardieu , Léna Damaj , Claude Bendavid , Anne-Frédérique Dessein , Cécile Acquaviva-Bourdain , David Cheillan

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

Annals of clinical and translational neurology

Avec: Cécile Rouzier , Emmanuelle Pion , Annabelle Chaussenot , Céline Bris , Samira Ait-El-Mkadem Saadi , Valérie Desquiret-Dumas , Naïg Gueguen , Konstantina Fragaki , Patrizia Amati-Bonneau , Giulia Barcia , Pauline Gaignard , Julie Steffann , Alessandra Pennisi , Jean-Paul Bonnefont , Elise Lebigot , Sylvie Bannwarth , Bruno Francou , Benoit Rucheton , Damien Sternberg , Marie-Laure Martin-Negrier , Aurélien Trimouille , Gaëlle Hardy , Stéphane Allouche , Cécile Acquaviva-Bourdain , Cécile Pagan , Anne-Sophie Lebre , Pascal Reynier , Mireille Cossee , Shahram Attarian , Véronique Paquis-Flucklinger , Auteur inconnu , Vincent Procaccio

Cohort Expansion and Genotype-Phenotype Analysis of RAB11A-Associated Neurodevelopmental Disorder.

Pediatric neurology

Avec: Maria Carla Borroto , Heena Patel , Siddharth Srivastava , Lindsay C Swanson , Boris Keren , Sandra Whalen , Cyril Mignot , Xiaodong Wang , Qian Chen , Jill A Rosenfeld , Scott McLean , Rebecca O Littlejohn , Auteur inconnu , Lisa Emrick , Lindsay C Burrage , Ruben Attali , Gaetan Lesca , Cecile Acquaviva-Bourdain , Catherine Sarret , Laurie H Seaver , Konrad Platzer , Tobias Bartolomaeus , Cornelia Wünsch , Susann Fischer , Ana Maria Rodriguez Barreto , Jorge L Granadillo , Elisabeth Schreiner , Theresa Brunet , Ulrich A Schatz , Isabelle Thiffault , Sureni V Mullegama , Jacques L Michaud , Fadi F Hamdan , Elsa Rossignol , Philippe M Campeau

Réseau de co-auteurs

Cécile Acquaviva-Bourdain 20 collaborations

Justine Bacchetta 6 collaborations

Anne-Frédérique Dessein 4 collaborations

Anne-Laure Sellier-Leclerc 3 collaborations

Aurélia Bertholet-Thomas 3 collaborations

Marie Nowoczyn 3 collaborations

Christelle Corne 3 collaborations

Régine Minet-Quinard 3 collaborations

Laetitia Van Noolen 3 collaborations

Roselyne Garnotel 3 collaborations

Dima Kayal 2 collaborations

Ségolène Gaillard 2 collaborations

Laurent Roche 2 collaborations

Georges Deschênes 2 collaborations

Denis Morin 2 collaborations

Christine Vianey-Saban 2 collaborations

Patrice Nony 2 collaborations

Fabien Subtil 2 collaborations

Catherine Mercier 2 collaborations

Pierre Cochat 2 collaborations

Behrouz Kassai 2 collaborations

Cécile Pagan 2 collaborations

Charles R Lefèvre 2 collaborations

Roseline Froissart 2 collaborations

Sandrine Lemoine 2 collaborations

Abd El Kader Ait Tayeb 2 collaborations

Romain Colle 2 collaborations

Kenneth Chappell 2 collaborations

Khalil El-Asmar 2 collaborations

Denis J David 2 collaborations

Séverine Trabado 2 collaborations

Philippe Chanson 2 collaborations

Bruno Feve 2 collaborations

Laurent Becquemont 2 collaborations

Céline Verstuyft 2 collaborations

Emmanuelle Corruble 2 collaborations

Jean-Baptiste Arnoux 2 collaborations

Damien Sternberg 2 collaborations

None None 2 collaborations

Marie-Noëlle Méaux 1 collaboration

Jérôme Harambat 1 collaboration

Lise Allard 1 collaboration

Enzo Vedrine 1 collaboration

Claire Goursaud 1 collaboration

Aurelia Bertholet-Thomas 1 collaboration

Catherine Cornu 1 collaboration

Felicity Stokes 1 collaboration

Bernd Hoppe 1 collaboration

John C Lieske 1 collaboration

Elisabeth Lindner 1 collaboration

Greg Toulson 1 collaboration

Frédéric M Vaz 1 collaboration

Gill Rumsby 1 collaboration

Christophe Carreau 1 collaboration

Charline Benoit 1 collaboration

Guido Ahle 1 collaboration

Cécile Cauquil 1 collaboration

Agathe Roubertie 1 collaboration

Timothée Lenglet 1 collaboration

Jeremy Cosgrove 1 collaboration

Isabelle Meunier 1 collaboration

Alice Veauville-Merllié 1 collaboration

Yann Nadjar 1 collaboration

Sophie Scheidecker 1 collaboration

Séverine Bär 1 collaboration

Corinne Stoetzel 1 collaboration

Véronique Geoffroy 1 collaboration

Béatrice Lannes 1 collaboration

Bruno Rinaldi 1 collaboration

Frédéric Fischer 1 collaboration

Hubert D Becker 1 collaboration

Valérie Pelletier 1 collaboration

Stéphane Kremer 1 collaboration

Marc Mirande 1 collaboration

Christine Tranchant 1 collaboration

Jean Muller 1 collaboration

Sylvie Friant 1 collaboration

Hélène Dollfus 1 collaboration

Irma Machuca-Gayet 1 collaboration

Thomas Quinaux 1 collaboration

Débora Claramunt-Taberner 1 collaboration

Jérémie Gautheron 1 collaboration

Lara Lima 1 collaboration

Baris Akinci 1 collaboration

Jamila Zammouri 1 collaboration

Martine Auclair 1 collaboration

Sema Kalkan Ucar 1 collaboration

Samim Ozen 1 collaboration

Canan Altay 1 collaboration

Bridget E Bax 1 collaboration

Ivan Nemazanyy 1 collaboration

Véronique Lenoir 1 collaboration

Carina Prip-Buus 1 collaboration

Olivier Lascols 1 collaboration

Bruno Fève 1 collaboration

Corinne Vigouroux 1 collaboration

Esther Noel 1 collaboration

Isabelle Jéru 1 collaboration

Aurélie de Mul 1 collaboration

Sarah Cabet 1 collaboration

Sophie Collardeau-Frachon 1 collaboration

Nathalie Streichenberger 1 collaboration

Sophie Berenguer-Martin 1 collaboration

Alix Clémenson 1 collaboration

Jérôme Massardier 1 collaboration

Fabienne Prieur 1 collaboration

Hélène Laurichesse 1 collaboration

Fanny Laffargue 1 collaboration

Magali Pettazzoni 1 collaboration

Alice Veauville 1 collaboration

Marie-Hélène Read 1 collaboration

A Dernoncourt 1 collaboration

J Bouchereau 1 collaboration

C Acquaviva-Bourdain 1 collaboration

C Wicker 1 collaboration

P De Lonlay 1 collaboration

C Gourguechon 1 collaboration

H Sevestre 1 collaboration

P-E Merle 1 collaboration

J Maizel 1 collaboration

C Brault 1 collaboration

Segolene Gaillard 1 collaboration

Bruno Ranchin 1 collaboration

Eurielle Bodénan 1 collaboration

Valérie Laudy 1 collaboration

Cécile Rouges 1 collaboration

Setareh Zarrabian 1 collaboration

Juliette Bouchereau 1 collaboration

Camille Wicker 1 collaboration

Karine Mention 1 collaboration

Clothilde Marbach 1 collaboration

Jeremy Do Cao 1 collaboration

Claire-Marine Berat 1 collaboration

Marianne Jaroussie 1 collaboration

Aline Cano 1 collaboration

Magali Gorce 1 collaboration

Alexa Garros 1 collaboration

Alice Kuster 1 collaboration

Célia Hoebeke 1 collaboration

Claire Mayer 1 collaboration

Anaïs Brassier 1 collaboration

Laurent Gouya 1 collaboration

Cécile Schrimpf 1 collaboration

Manuel Schiff 1 collaboration

Jean-François Benoist 1 collaboration

Sandy Courapied 1 collaboration

Pierre Broué 1 collaboration

Mehdi Oualha 1 collaboration

Claire Douillard 1 collaboration

Pascale de Lonlay 1 collaboration

Martin Krahn 1 collaboration

Valérie Biancalana 1 collaboration

Mathieu Cerino 1 collaboration

Aurélien Perrin 1 collaboration

Laurence Michel-Calemard 1 collaboration

Juliette Nectoux 1 collaboration

France Leturcq 1 collaboration

Céline Bouchet-Séraphin 1 collaboration

Emmanuelle Campana-Salort 1 collaboration

Annamaria Molon 1 collaboration

Jon Andoni Urtizberea 1 collaboration

Frédérique Audic 1 collaboration

Brigitte Chabrol 1 collaboration

Jean Pouget 1 collaboration

Judith Melki 1 collaboration

John Rendu 1 collaboration

François Petit 1 collaboration

Corinne Métay 1 collaboration

Nathalie Seta 1 collaboration

Julien Fauré 1 collaboration

Mireille Cossée 1 collaboration

Christophe Grocholski 1 collaboration

Laurence Derain Dubourg 1 collaboration

Fitsum Guebre-Egziabher 1 collaboration

Nadia Abid 1 collaboration

Cécile Chambrier 1 collaboration

François Labarthe 1 collaboration

Diane Dufour 1 collaboration

Caroline Moreau 1 collaboration

Marie Faoucher 1 collaboration

Paul Rollier 1 collaboration

Marine Tardieu 1 collaboration

Léna Damaj 1 collaboration

Claude Bendavid 1 collaboration

David Cheillan 1 collaboration

Cécile Rouzier 1 collaboration

Emmanuelle Pion 1 collaboration

Annabelle Chaussenot 1 collaboration

Céline Bris 1 collaboration

Samira Ait-El-Mkadem Saadi 1 collaboration

Valérie Desquiret-Dumas 1 collaboration

Naïg Gueguen 1 collaboration

Konstantina Fragaki 1 collaboration

Patrizia Amati-Bonneau 1 collaboration

Giulia Barcia 1 collaboration

Pauline Gaignard 1 collaboration

Julie Steffann 1 collaboration

Alessandra Pennisi 1 collaboration

Jean-Paul Bonnefont 1 collaboration

Elise Lebigot 1 collaboration

Sylvie Bannwarth 1 collaboration

Bruno Francou 1 collaboration

Benoit Rucheton 1 collaboration

Marie-Laure Martin-Negrier 1 collaboration

Aurélien Trimouille 1 collaboration

Gaëlle Hardy 1 collaboration

Stéphane Allouche 1 collaboration

Anne-Sophie Lebre 1 collaboration

Pascal Reynier 1 collaboration

Mireille Cossee 1 collaboration

Shahram Attarian 1 collaboration

Véronique Paquis-Flucklinger 1 collaboration

Vincent Procaccio 1 collaboration

Maria Carla Borroto 1 collaboration

Heena Patel 1 collaboration

Siddharth Srivastava 1 collaboration

Lindsay C Swanson 1 collaboration

Boris Keren 1 collaboration

Sandra Whalen 1 collaboration

Cyril Mignot 1 collaboration

Xiaodong Wang 1 collaboration

Qian Chen 1 collaboration

Jill A Rosenfeld 1 collaboration

Scott McLean 1 collaboration

Rebecca O Littlejohn 1 collaboration

Lisa Emrick 1 collaboration

Lindsay C Burrage 1 collaboration

Ruben Attali 1 collaboration

Gaetan Lesca 1 collaboration

Catherine Sarret 1 collaboration

Laurie H Seaver 1 collaboration

Konrad Platzer 1 collaboration

Tobias Bartolomaeus 1 collaboration

Cornelia Wünsch 1 collaboration

Susann Fischer 1 collaboration

Ana Maria Rodriguez Barreto 1 collaboration

Jorge L Granadillo 1 collaboration

Elisabeth Schreiner 1 collaboration

Theresa Brunet 1 collaboration

Ulrich A Schatz 1 collaboration

Isabelle Thiffault 1 collaboration

Sureni V Mullegama 1 collaboration

Jacques L Michaud 1 collaboration

Fadi F Hamdan 1 collaboration

Elsa Rossignol 1 collaboration

Philippe M Campeau 1 collaboration