Publications by authors named "Apolline Imbard"

25Publications

Adenosine kinase deficiency: Three new cases and diagnostic value of hypermethioninemia.

Authors:
Pierre-Hadrien Becker Zeynep Demir Yael Mozer Glassberg Caroline Sevin Dalila Habes Apolline Imbard Charlotte Mussini Michal Rozenfeld Bar Lev Anne Davit-Spraul Jean-François Benoist Patrice Thérond Abdelhamid Slama Emmanuel Jacquemin Emmanuel Gonzales Pauline Gaignard

Mol Genet Metab 2021 Jan 28;132(1):38-43. Epub 2020 Nov 28.

Department of Biochemistry, Reference Center for Mitochondrial Disease, FILNEMUS, Bicêtre University Hospital, University of Paris-Saclay, Assistance Publique-Hôpitaux de Paris, Le Kremlin-Bicêtre, France; Lip(Sys)2, University of Paris-Saclay, Chatenay-Malabry, France. Electronic address:

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January 2021

[An acidosis not so basic].

Authors:
Bertrand Lefrère Emmanuelle Ecochard-Dugelay Alexis Mosca Jean-François Benoist Jean-Pierre Hugot Apolline Imbard

Ann Biol Clin (Paris) 2020 08;78(4):417-424

Laboratoire de biochimie-hormonologie, Centre hospitalo-universitaire Robert-Debré, AP-HP, Paris, France, LIPSYS, Faculté de pharmacie, Université Paris-Saclay, Châtenay-Malabry, France.

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August 2020

AICA-ribosiduria due to ATIC deficiency: Delineation of the phenotype with three novel cases, and long-term update on the first case.

Authors:
Francis Ramond Marlène Rio Bénédicte Héron Apolline Imbard Sandrine Marie Kareen Billiemaz Anne-Sophie Denommé-Pichon Paul Kuentz Irène Ceballos Monique Piraud Marie-Françoise Vincent Renaud Touraine

J Inherit Metab Dis 2020 Nov 9;43(6):1254-1264. Epub 2020 Jul 9.

Service de Génétique, CHU-Hôpital Nord, Saint-Etienne, France.

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November 2020

Nitrous oxide and vitamin B12 in sickle cell disease: Not a laughing situation.

Authors:
Camille Desprairies Apolline Imbard Bérengère Koehl Mathie Lorrot Jean Gaschignard Julie Sommet Samia Pichard Laurent Holvoet Albert Faye Malika Benkerrou Jean-François Benoist Manuel Schiff

Mol Genet Metab Rep 2020 Jun 17;23:100579. Epub 2020 Mar 17.

Reference Centre for Inborn Errors of Metabolism, Robert-Debré University Hospital, APHP, Paris 75019, France.

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June 2020

Diagnostic contribution of metabolic workup for neonatal inherited metabolic disorders in the absence of expanded newborn screening.

Authors:
Alexandra Bower Apolline Imbard Jean-François Benoist Samia Pichard Odile Rigal Olivier Baud Manuel Schiff

Sci Rep 2019 Oct 1;9(1):14098. Epub 2019 Oct 1.

Reference Center for Inborn Errors of Metabolism, Robert Debré University Hospital, APHP, Paris, 75019, France.

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October 2019

SLC13A3 variants cause acute reversible leukoencephalopathy and α-ketoglutarate accumulation.

Authors:
Joseph P Dewulf Elsa Wiame Imen Dorboz Monique Elmaleh-Bergès Apolline Imbard Dana Dumitriu Malgorzata Rak Agnès Bourillon Raphaël Helaers Alisha Malla Florence Renaldo Odile Boespflug-Tanguy Marie-Françoise Vincent Jean-François Benoist Ron A Wevers Avner Schlessinger Emile Van Schaftingen Marie-Cécile Nassogne Manuel Schiff

Ann Neurol 2019 03 29;85(3):385-395. Epub 2019 Jan 29.

UMR1141, PROTECT, INSERM, Paris Diderot University, Sorbonne Paris Cité, Paris, France.

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March 2019

Long-term liver disease in methylmalonic and propionic acidemias.

Authors:
Apolline Imbard Nuria Garcia Segarra Marine Tardieu Pierre Broué Juliette Bouchereau Samia Pichard Hélène Ogier de Baulny Abdelhamid Slama Charlotte Mussini Guy Touati Marie Danjoux Pauline Gaignard Hannes Vogel François Labarthe Manuel Schiff Jean-François Benoist

Mol Genet Metab 2018 04 7;123(4):433-440. Epub 2018 Feb 7.

Biochemistry Laboratory, APHP, Robert Debré University Hospital, Paris, France; Paris Sud University, Chatenay Malabry, France. Electronic address:

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April 2018

Adult-onset biotinidase deficiency: two individuals with severe, but reversible optic neuropathy.

Authors:
Romain Deschamps Julien Savatovsky Catherine Vignal Matthieu Fisselier Apolline Imbard Barry Wolf Melinda Procter Olivier Gout

J Neurol Neurosurg Psychiatry 2018 09 12;89(9):1009-1010. Epub 2017 Oct 12.

Department of Neurology, Fondation Ophtalmologique Adolphe de Rothschild, Paris, France.

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September 2018

Neurocognitive profiles in MSUD school-age patients.

Authors:
Juliette Bouchereau Julie Leduc-Leballeur Samia Pichard Apolline Imbard Jean-François Benoist Marie-Thérèse Abi Warde Jean-Baptiste Arnoux Valérie Barbier Anaïs Brassier Pierre Broué Aline Cano Brigitte Chabrol Gilles Damon Claire Gay Isabelle Guillain Florence Habarou Delphine Lamireau Chris Ottolenghi Laetitia Paermentier Frédérique Sabourdy Guy Touati Hélène Ogier de Baulny Pascale de Lonlay Manuel Schiff

J Inherit Metab Dis 2017 05 21;40(3):377-383. Epub 2017 Mar 21.

Reference Centre for Inborn Errors of Metabolism, Robert Debré University Hospital, APHP, 48 boulevard Sérurier, 75019, Paris, France.

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May 2017

Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability.

Authors:
Yair Anikster Tobias B Haack Thierry Vilboux Ben Pode-Shakked Beat Thöny Nan Shen Virginia Guarani Thomas Meissner Ertan Mayatepek Friedrich K Trefz Dina Marek-Yagel Aurora Martinez Edward L Huttlin Joao A Paulo Riccardo Berutti Jean-François Benoist Apolline Imbard Imen Dorboz Gali Heimer Yuval Landau Limor Ziv-Strasser May Christine V Malicdan Corinne Gemperle-Britschgi Kirsten Cremer Hartmut Engels David Meili Irene Keller Rémy Bruggmann Tim M Strom Thomas Meitinger James C Mullikin Gerard Schwartz Bruria Ben-Zeev William A Gahl J Wade Harper Nenad Blau Georg F Hoffmann Holger Prokisch Thomas Opladen Manuel Schiff

Am J Hum Genet 2017 02 26;100(2):257-266. Epub 2017 Jan 26.

UMR1141, PROTECT, INSERM, Université Paris Diderot, Sorbonne Paris Cité, Paris 75019, France; Reference Center for Inborn Errors of Metabolism, Robert Debré University Hospital, APHP, Paris 75019, France. Electronic address:

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February 2017

QIL1 mutation causes MICOS disassembly and early onset fatal mitochondrial encephalopathy with liver disease.

Authors:
Virginia Guarani Claude Jardel Dominique Chrétien Anne Lombès Paule Bénit Clémence Labasse Emmanuelle Lacène Agnès Bourillon Apolline Imbard Jean-François Benoist Imen Dorboz Mylène Gilleron Eric S Goetzman Pauline Gaignard Abdelhamid Slama Monique Elmaleh-Bergès Norma B Romero Pierre Rustin Hélène Ogier de Baulny Joao A Paulo J Wade Harper Manuel Schiff

Elife 2016 09 13;5. Epub 2016 Sep 13.

UMR1141, PROTECT, INSERM, Université Paris-Diderot, Sorbonne Paris Cité, Paris, France.

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September 2016

Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency.

Authors:
Rikke K J Olsen Eliška Koňaříková Teresa A Giancaspero Signe Mosegaard Veronika Boczonadi Lavinija Mataković Alice Veauville-Merllié Caterina Terrile Thomas Schwarzmayr Tobias B Haack Mari Auranen Piero Leone Michele Galluccio Apolline Imbard Purificacion Gutierrez-Rios Johan Palmfeldt Elisabeth Graf Christine Vianey-Saban Marcus Oppenheim Manuel Schiff Samia Pichard Odile Rigal Angela Pyle Patrick F Chinnery Vassiliki Konstantopoulou Dorothea Möslinger René G Feichtinger Beril Talim Haluk Topaloglu Turgay Coskun Safak Gucer Annalisa Botta Elena Pegoraro Adriana Malena Lodovica Vergani Daniela Mazzà Marcella Zollino Daniele Ghezzi Cecile Acquaviva Tiina Tyni Avihu Boneh Thomas Meitinger Tim M Strom Niels Gregersen Johannes A Mayr Rita Horvath Maria Barile Holger Prokisch

Am J Hum Genet 2016 Jun;98(6):1130-1145

Institute of Human Genetics, Technische Universität München, 81675 Munich, Germany; Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany.

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June 2016

High homocysteine induces betaine depletion.

Authors:
Apolline Imbard Jean-François Benoist Ruben Esse Sapna Gupta Sophie Lebon An S de Vriese Helene Ogier de Baulny Warren Kruger Manuel Schiff Henk J Blom

Biosci Rep 2015 Apr 28;35(4). Epub 2015 Apr 28.

‡Laboratory for Clinical Biochemistry and Metabolism, Department of General Pediatrics, Center for Pediatrics and Adolescent Medicine University Hospital, Freiburg D-79106, Germany.

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April 2015

New spastic paraplegia phenotype associated to mutation of NFU1.

Authors:
Davide Tonduti Imen Dorboz Apolline Imbard Abdelhamid Slama Audrey Boutron Samia Pichard Monique Elmaleh Louis Vallée Jean François Benoist Heléne Ogier Odile Boespflug-Tanguy

Orphanet J Rare Dis 2015 Feb 8;10:13. Epub 2015 Feb 8.

Paris Diderot University - Sorbonne Paris Cité; Inserm U1141, DHU PROTECT, Robert Debré Hospital, Paris, France.

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February 2015

NF1 single and multi-exons copy number variations in neurofibromatosis type 1.

Authors:
Apolline Imbard Eric Pasmant Audrey Sabbagh Armelle Luscan Magali Soares Philippe Goussard Hélène Blanché Ingrid Laurendeau Salah Ferkal Michel Vidaud Stéphane Pinson Christine Bellanne-Chantelot Dominique Vidaud Pierre Wolkenstein Béatrice Parfait

J Hum Genet 2015 Apr 29;60(4):221-4. Epub 2015 Jan 29.

1] EA7331, Université Paris Descartes, Sorbonne Paris Cité, Faculté des Sciences Pharmaceutiques et Biologiques, Paris, France [2] Service de Biochimie et de Génétique Moléculaire, Hôpital Cochin, Assistance Publique-Hôpitaux de Paris, Paris, France.

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April 2015

Body composition in patients with classical homocystinuria: body mass relates to homocysteine and choline metabolism.

Authors:
Soraia Poloni Sandra Leistner-Segal Isabel Cristina Bandeira Vânia D'Almeida Carolina Fischinger Moura de Souza Poli Mara Spritzer Kamila Castro Tássia Tonon Tatiéle Nalin Apolline Imbard Henk J Blom Ida V D Schwartz

Gene 2014 Aug 6;546(2):443-7. Epub 2014 May 6.

Post-Graduation Program in Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil; BRAIN Laboratory (Basic Research and Advanced Investigations in Neurosciences), Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.

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August 2014

Protein arginine hypomethylation in a mouse model of cystathionine β-synthase deficiency.

Authors:
Ruben Esse Apolline Imbard Cristina Florindo Sapna Gupta Eoin P Quinlivan Mariska Davids Tom Teerlink Isabel Tavares de Almeida Warren D Kruger Henk J Blom Rita Castro

FASEB J 2014 Jun 14;28(6):2686-95. Epub 2014 Feb 14.

Institute for Medicines and Pharmaceutical Sciences (iMed.UL) and Department of Biochemistry and Human Biology, Faculty of Pharmacy, University of Lisbon, Lisbon, Portugal;

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June 2014

Neural tube defects, folic acid and methylation.

Authors:
Apolline Imbard Jean-François Benoist Henk J Blom

Int J Environ Res Public Health 2013 Sep 17;10(9):4352-89. Epub 2013 Sep 17.

Biochemistry-Hormonology Laboratory, Robert Debré Hospital, APHP, 48 bd Serrurier, Paris 75019, France.

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September 2013

NF1 molecular characterization and neurofibromatosis type I genotype-phenotype correlation: the French experience.

Authors:
Audrey Sabbagh Eric Pasmant Apolline Imbard Armelle Luscan Magali Soares Hélène Blanché Ingrid Laurendeau Salah Ferkal Michel Vidaud Stéphane Pinson Christine Bellanné-Chantelot Dominique Vidaud Béatrice Parfait Pierre Wolkenstein

Hum Mutat 2013 Nov 26;34(11):1510-8. Epub 2013 Aug 26.

UMR745 INSERM, PRES Sorbonne Paris Cité, Université Paris Descartes, Faculté des Sciences Pharmaceutiques et Biologiques, Paris, France; IRD, UMR216, Mère et enfant face aux infections tropicales, Paris, France; PRES Sorbonne Paris Cité, Université Paris Descartes, Faculté des Sciences Pharmaceutiques et Biologiques, Paris, France.

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November 2013

Global protein and histone arginine methylation are affected in a tissue-specific manner in a rat model of diet-induced hyperhomocysteinemia.

Authors:
Ruben Esse Cristina Florindo Apolline Imbard Mónica S Rocha An S de Vriese Yvo M Smulders Tom Teerlink Isabel Tavares de Almeida Rita Castro Henk J Blom

Biochim Biophys Acta 2013 Oct 22;1832(10):1708-14. Epub 2013 May 22.

Department of Clinical Chemistry, VU University Medical Center, Amsterdam, The Netherlands.

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October 2013

Methylation metabolites in amniotic fluid depend on gestational age.

Authors:
Apolline Imbard Henk J Blom Dimitri Schlemmer Rob Barto Isabelle Czerkiewicz Odile Rigal Françoise Muller Jean-François Benoist

Prenat Diagn 2013 Sep 31;33(9):848-55. Epub 2013 May 31.

Biochemistry Hormonology Laboratory, AP-HP Hôpital Robert Debré, Paris, France.

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September 2013

Plasma choline and betaine correlate with serum folate, plasma S-adenosyl-methionine and S-adenosyl-homocysteine in healthy volunteers.

Authors:
Apolline Imbard Yvo M Smulders Rob Barto Desiree E C Smith Robert M Kok Cornelis Jakobs Henk J Blom

Clin Chem Lab Med 2013 Mar;51(3):683-92

Biochemistry-Hormonology Laboratory, Robert Debré Hospital, 48 Boulevard Serurier, 75019 Paris, France.

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March 2013

Phosphoethanolamine normal range in pediatric urines for hypophosphatasia screening.

Authors:
Apolline Imbard Corinne Alberti Priscilla Armoogum-Boizeau Chris Ottolenghi Emilie Josserand Odile Rigal Jean-François Benoist

Clin Chem Lab Med 2012 Dec;50(12):2231-3

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December 2012

Measurement of free and total sialic acid by isotopic dilution liquid chromatography tandem mass spectrometry method.

Authors:
Abdellah Tebani Dimitri Schlemmer Apolline Imbard Odile Rigal Dominique Porquet Jean-François Benoist

J Chromatogr B Analyt Technol Biomed Life Sci 2011 Dec 13;879(31):3694-9. Epub 2011 Oct 13.

Laboratoire de Biochimie Hormonologie, Hôpital Robert Debré, Paris, France.

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December 2011

Antenatal biochemical expression of cystinuria and relation to fetal hyperechogenic colon.

Authors:
Jean-François Benoist Apolline Imbard Sophie Dreux Catherine Garel Georges Haddad Méderic Hoffet Daniel Biou Françoise Muller

Clin Chem 2007 Jan;53(1):149-50

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January 2007