Publications by authors named "David Cheillan"

48Publications

Zellweger Syndrome Disorders: From Severe Neonatal Disease to Atypical Adult Presentation.

Authors:
David Cheillan

Adv Exp Med Biol 2020 ;1299:71-80

Inserm U1060 - CarMeN Laboratory, Lyon University, Pierre-Bénite, France.

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January 2020

Alterations of endogenous sphingolipid metabolism in cardiometabolic diseases: Towards novel therapeutic approaches.

Biochimie 2020 Feb 12;169:133-143. Epub 2019 Oct 12.

Univ Lyon, CarMeN Laboratory, Inserm, INRA, INSA Lyon, Université Claude Bernard Lyon 1, Lyon-Sud Medical School, Pierre-Bénite, Fr-69310, France. Electronic address:

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February 2020

Sphingolipid-mediated inflammatory signaling leading to autophagy inhibition converts erythropoiesis to myelopoiesis in human hematopoietic stem/progenitor cells.

Cell Death Differ 2019 09 13;26(9):1796-1812. Epub 2018 Dec 13.

Department of Pharmacy, Research Institute of Pharmaceutical Sciences, College of Pharmacy, Seoul National University, 1 Gwanak-ro, Gwanak-gu, Seoul, 08826, South Korea.

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September 2019

Contribution of tandem mass spectrometry to the diagnosis of lysosomal storage disorders.

J Inherit Metab Dis 2018 05 19;41(3):457-477. Epub 2018 Mar 19.

Unité Maladies Héréditaires du Métabolisme, Service de Biochimie et Biologie Moléculaire Grand Est, Centre de Biologie et de Pathologie Est, Hospices Civils de Lyon, 59 boulevard Pinel, 69677, Bron cedex, France.

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May 2018

Functional assessment of creatine transporter in control and X-linked SLC6A8-deficient fibroblasts.

Mol Genet Metab 2018 04 16;123(4):463-471. Epub 2018 Feb 16.

Department of Biochemistry and Molecular Biology, Laboratory of Hormonology, Metabolism-Nutrition & Oncology (HMNO), Center of Biology and Pathology (CBP) Pierre-Marie Degand, CHRU, Lille, France; Inserm, Lille, France; Université de Lyon, INSERM U1060 CarMeN, Lyon, France.; Univ. Lille, RADEME - Maladies RAres du Développement et du Métabolisme : du phénotype au génotype et à la Fonction, Lille, EA 7364, France. Electronic address:

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April 2018

LC-MS/MS multiplex analysis of lysosphingolipids in plasma and amniotic fluid: A novel tool for the screening of sphingolipidoses and Niemann-Pick type C disease.

PLoS One 2017 27;12(7):e0181700. Epub 2017 Jul 27.

Service de Biochimie et Biologie Moléculaire Grand Est, Unité Médicale Pathologies Métaboliques, Erythrocytaires et Dépistage Périnatal, Centre de Biologie et de Pathologie Est, Hospices Civils de Lyon, Bron, France.

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September 2017

Optimization of the French cystic fibrosis newborn screening programme by a centralized tracking process.

J Med Screen 2018 Mar 28;25(1):6-12. Epub 2017 Apr 28.

1 Association Française pour le Dépistage et la Prévention des Handicaps de l' Enfant (AFDPHE), Paris, France.

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March 2018

Screening of Wilson's disease in a psychiatric population: difficulties and pitfalls. A preliminary study.

Ann Gen Psychiatry 2017 4;16:19. Epub 2017 Apr 4.

Laboratory of Inherited Metabolic Diseases, Centre de Biologie Est, Hospices Civils de Lyon, Bron, France.

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April 2017

Antenatal manifestations of inborn errors of metabolism: biological diagnosis.

J Inherit Metab Dis 2016 09 8;39(5):611-624. Epub 2016 Jul 8.

Service Maladies Héréditaires du Métabolisme et Dépistage Néonatal, Centre de Biologie et de Pathologie Est CHU de Lyon, Lyon, France.

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September 2016

Expanding the spectrum of PEX10-related peroxisomal biogenesis disorders: slowly progressive recessive ataxia.

J Neurol 2016 Aug 26;263(8):1552-8. Epub 2016 May 26.

Laboratoire de Génétique de Maladies Rares, Institut Universitaire de Recherche Clinique, EA7402, Université de Montpellier, CHU Montpellier, 641 Avenue du Doyen Gaston Giraud, 34093, Montpellier Cedex 5, France.

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August 2016

Effect of l-Arginine in One Patient with Peroxisome Biogenesis Disorder due to PEX12 Deficiency.

Neuropediatrics 2016 Jun 4;47(3):179-81. Epub 2016 Mar 4.

Reference Centre for Inborn Errors of Metabolism, University Hospital of Nancy, France.

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June 2016

Increased incidence of congenital hypothyroidism in France from 1982 to 2012: a nationwide multicenter analysis.

Ann Epidemiol 2016 Feb 12;26(2):100-105.e4. Epub 2015 Dec 12.

French Association for Screening and Prevention of Child Handicaps, Paris, France; CHU Rennes, Pôle de Pédiatrie Médico-chirurgicale et de Génétique Clinique, Rennes, France; Université Rennes 1, Faculté de Médecine, Rennes, France.

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February 2016

Creatine biosynthesis and transport in health and disease.

Biochimie 2015 Dec 2;119:146-65. Epub 2015 Nov 2.

Biochemistry and Molecular Biology, Hormonology-Metabolism-Nutrition & Oncology (HMNO), Center of Biology & Pathology (CBP) Pierre-Marie Degand, CHRU Lille, 59037 Lille, France; RADEME Research Team for Rare Metabolic and Developmental Diseases, EA 7364, Université Lille 2, Lille, France; Inserm, Lille, France. Electronic address:

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December 2015

Milk Polar Lipids Affect In Vitro Digestive Lipolysis and Postprandial Lipid Metabolism in Mice.

J Nutr 2015 Aug 1;145(8):1770-7. Epub 2015 Jul 1.

UMR 1397 National Institute for Agricultural Research (INRA), Lyon 1 University, U1060 National Institute of Health and Medical Research (INSERM), National Institute of Applied Science of Lyon, INSA-Lyon, Institute for Multidisciplinary Biochemistry of Lipids, Cardiovascular, Metabolism, Diabetologia and Nutrition Laboratory, Villeurbanne, France;

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August 2015

ALG3-CDG: Report of two siblings with antenatal features carrying homozygous p.Gly96Arg mutation.

Am J Med Genet A 2015 Nov 30;167A(11):2748-54. Epub 2015 Jun 30.

Centre de Référence des Anomalies du Développement, Service de Génétique, Hôpital Femme Mère Enfant, Hospices Civils de Lyon, Bron, France.

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November 2015

Neonatal screening for cystic fibrosis: comparing the performances of IRT/DNA and IRT/PAP.

J Cyst Fibros 2014 Jul 7;13(4):384-90. Epub 2014 Feb 7.

Hôpital sud CHU Université de Rennes I, 35203 Rennes, France; AFDPHE, 75015 Paris, France.

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July 2014

Enhanced interpretation of newborn screening results without analyte cutoff values.

Authors:
Gregg Marquardt Robert Currier David M S McHugh Dimitar Gavrilov Mark J Magera Dietrich Matern Devin Oglesbee Kimiyo Raymond Piero Rinaldo Emily H Smith Silvia Tortorelli Coleman T Turgeon Fred Lorey Bridget Wilcken Veronica Wiley Lawrence C Greed Barry Lewis François Boemer Roland Schoos Sandrine Marie Marie-Françoise Vincent Yuri Cleverthon Sica Mouseline Torquado Domingos Khalid Al-Thihli Graham Sinclair Osama Y Al-Dirbashi Pranesh Chakraborty Mark Dymerski Cory Porter Adrienne Manning Margretta R Seashore Jonessy Quesada Alejandra Reuben Petr Chrastina Petr Hornik Iman Atef Mandour Sahar Abdel Atty Sharaf Olaf Bodamer Bonifacio Dy Jasmin Torres Roberto Zori David Cheillan Christine Vianey-Saban David Ludvigson Adrya Stembridge Jim Bonham Melanie Downing Yannis Dotsikas Yannis L Loukas Vagelis Papakonstantinou Georgios S A Zacharioudakis Ákos Baráth Eszter Karg Leifur Franzson Jon J Jonsson Nancy N Breen Barbara G Lesko Stanton L Berberich Kimberley Turner Margherita Ruoppolo Emanuela Scolamiero Italo Antonozzi Claudia Carducci Ubaldo Caruso Michela Cassanello Giancarlo la Marca Elisabetta Pasquini Iole Maria Di Gangi Giuseppe Giordano Marta Camilot Francesca Teofoli Shawn M Manos Colleen K Peterson Stephanie K Mayfield Gibson Darrin W Sevier Soo-Youn Lee Hyung-Doo Park Issam Khneisser Phaidra Browning Fizza Gulamali-Majid Michael S Watson Roger B Eaton Inderneel Sahai Consuelo Ruiz Rosario Torres Mary A Seeterlin Eleanor L Stanley Amy Hietala Mark McCann Carlene Campbell Patrick V Hopkins Monique G de Sain-Van der Velden Bert Elvers Mark A Morrissey Sherlykutty Sunny Detlef Knoll Dianne Webster Dianne M Frazier Julie D McClure David E Sesser Sharon A Willis Hugo Rocha Laura Vilarinho Catharine John James Lim S Graham Caldwell Kathy Tomashitis Daisy E Castiñeiras Ramos Jose Angel Cocho de Juan Inmaculada Rueda Fernández Raquel Yahyaoui Macías José María Egea-Mellado Inmaculada González-Gallego Carmen Delgado Pecellin Maria Sierra García-Valdecasas Bermejo Yin-Hsiu Chien Wuh-Liang Hwu Thomas Childs Christine D McKeever Tijen Tanyalcin Mahera Abdulrahman Cecilia Queijo Aída Lemes Tim Davis William Hoffman Mei Baker Gary L Hoffman

Genet Med 2012 Jul 16;14(7):648-55. Epub 2012 Feb 16.

Department of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, Rochester, MN, USA.

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July 2012

TMEM165 deficiency causes a congenital disorder of glycosylation.

Am J Hum Genet 2012 Jul 7;91(1):15-26. Epub 2012 Jun 7.

Centre National de la Recherche Scientifique UMR, Structural and Functional Glycobiology Unit, University of Lille, Institut Fédératif de Recherche, Villeneuve D'Ascq, France.

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July 2012

TNF-α- and tumor-induced skeletal muscle atrophy involves sphingolipid metabolism.

Skelet Muscle 2012 Jan 18;2(1). Epub 2012 Jan 18.

Lyon University, INSERM U1060, CarMeN Laboratory, University Lyon-1, Institut National de la Recherche Agronomique UMR1235, INSA-Lyon, F-69600 Oullins, France.

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January 2012

Treatment by oral creatine, L-arginine and L-glycine in six severely affected patients with creatine transporter defect.

J Inherit Metab Dis 2012 Jan 10;35(1):151-7. Epub 2011 Jun 10.

Reference Center for Inherited Metabolic Disorders (MaMEA), Necker-Enfants Malades Hospital, Paris Descartes University, 149 Rue de Sèvres, 75743 Paris Cedex, France.

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January 2012

Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative project.

Authors:
David M S McHugh Cynthia A Cameron Jose E Abdenur Mahera Abdulrahman Ona Adair Shahira Ahmed Al Nuaimi Henrik Åhlman Jennifer J Allen Italo Antonozzi Shaina Archer Sylvia Au Christiane Auray-Blais Mei Baker Fiona Bamforth Kinga Beckmann Gessi Bentz Pino Stanton L Berberich Robert Binard François Boemer Jim Bonham Nancy N Breen Sandra C Bryant Michele Caggana S Graham Caldwell Marta Camilot Carlene Campbell Claudia Carducci Sandra C Bryant Michele Caggana S Graham Caldwell Marta Camilot Carlene Campbell Claudia Carducci Rohit Cariappa Clover Carlisle Ubaldo Caruso Michela Cassanello Ane Miren Castilla Daisy E Castiñeiras Ramos Pranesh Chakraborty Ram Chandrasekar Alfredo Chardon Ramos David Cheillan Yin-Hsiu Chien Thomas A Childs Petr Chrastina Yuri Cleverthon Sica Jose Angel Cocho de Juan Maria Elena Colandre Veronica Cornejo Espinoza Gaetano Corso Robert Currier Denis Cyr Noemi Czuczy Oceania D'Apolito Tim Davis Monique G de Sain-Van der Velden Carmen Delgado Pecellin Iole Maria Di Gangi Cristina Maria Di Stefano Yannis Dotsikas Melanie Downing Stephen M Downs Bonifacio Dy Mark Dymerski Inmaculada Rueda Bert Elvers Roger Eaton Barbara M Eckerd Fatma El Mougy Sarah Eroh Mercedes Espada Catherine Evans Sandy Fawbush Kristel F Fijolek Lawrence Fisher Leifur Franzson Dianne M Frazier Luciana R C Garcia Maria Sierra García-Valdecasas Bermejo Dimitar Gavrilov Rosemarie Gerace Giuseppe Giordano Yolanda González Irazabal Lawrence C Greed Robert Grier Elyse Grycki Xuefan Gu Fizza Gulamali-Majid Arthur F Hagar Lianshu Han W Harry Hannon Christa Haslip Fayza Abdelhamid Hassan Miao He Amy Hietala Leslie Himstedt Gary L Hoffman William Hoffman Philis Hoggatt Patrick V Hopkins David M Hougaard Kerie Hughes Patricia R Hunt Wuh-Liang Hwu June Hynes Isabel Ibarra-González Cindy A Ingham Maria Ivanova Ward B Jacox Catharine John John P Johnson Jón J Jónsson Eszter Karg David Kasper Brenda Klopper Dimitris Katakouzinos Issam Khneisser Detlef Knoll Hirinori Kobayashi Ronald Koneski Viktor Kozich Rasoul Kouapei Dirk Kohlmueller Ivo Kremensky Giancarlo la Marca Marcia Lavochkin Soo-Youn Lee Denis C Lehotay Aida Lemes Joyce Lepage Barbara Lesko Barry Lewis Carol Lim Sharon Linard Martin Lindner Michele A Lloyd-Puryear Fred Lorey Yannis L Loukas Julie Luedtke Neil Maffitt J Fergall Magee Adrienne Manning Shawn Manos Sandrine Marie Sônia Marchezi Hadachi Gregg Marquardt Stephen J Martin Dietrich Matern Stephanie K Mayfield Gibson Philip Mayne Tonya D McCallister Mark McCann Julie McClure James J McGill Christine D McKeever Barbara McNeilly Mark A Morrissey Paraskevi Moutsatsou Eleanor A Mulcahy Dimitris Nikoloudis Bent Norgaard-Pedersen Devin Oglesbee Mariusz Oltarzewski Daniela Ombrone Jelili Ojodu Vagelis Papakonstantinou Sherly Pardo Reoyo Hyung-Doo Park Marzia Pasquali Elisabetta Pasquini Pallavi Patel Kenneth A Pass Colleen Peterson Rolf D Pettersen James J Pitt Sherry Poh Arnold Pollak Cory Porter Philip A Poston Ricky W Price Cecilia Queijo Jonessy Quesada Edward Randell Enzo Ranieri Kimiyo Raymond John E Reddic Alejandra Reuben Charla Ricciardi Piero Rinaldo Jeff D Rivera Alicia Roberts Hugo Rocha Geraldine Roche Cheryl Rochman Greenberg José María Egea Mellado María Jesús Juan-Fita Consuelo Ruiz Margherita Ruoppolo S Lane Rutledge Euijung Ryu Christine Saban Inderneel Sahai Maria Isabel Salazar García-Blanco Pedro Santiago-Borrero Andrea Schenone Roland Schoos Barb Schweitzer Patricia Scott Margretta R Seashore Mary A Seeterlin David E Sesser Darrin W Sevier Scott M Shone Graham Sinclair Victor A Skrinska Eleanor L Stanley Erin T Strovel April L Studinski Jones Sherlykutty Sunny Zoltan Takats Tijen Tanyalcin Francesca Teofoli J Robert Thompson Kathy Tomashitis Mouseline Torquado Domingos Jasmin Torres Rosario Torres Silvia Tortorelli Sandor Turi Kimberley Turner Nick Tzanakos Alf G Valiente Hillary Vallance Marcela Vela-Amieva Laura Vilarinho Ulrika von Döbeln Marie-Francoise Vincent B Chris Vorster Michael S Watson Dianne Webster Sheila Weiss Bridget Wilcken Veronica Wiley Sharon K Williams Sharon A Willis Michael Woontner Katherine Wright Raquel Yahyaoui Seiji Yamaguchi Melissa Yssel Wendy M Zakowicz

Genet Med 2011 Mar;13(3):230-54

Mayo Clinic College of Medicine, Rochester, Minnesota, USA.

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March 2011

Amino acid profiling for the diagnosis of inborn errors of metabolism.

Methods Mol Biol 2011 ;708:25-53

Laboratoire des Maladies Héréditaires du Métabolisme et Dépistage Néonatal, Hospices Civils de Lyon, Centre de Biologie Est, Bron, France.

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April 2011

Ovarian tissue cryopreservation and subsequent spontaneous pregnancies in a patient with classic galactosemia.

Fertil Steril 2011 Jan;95(1):290.e1-3

INSERM U954, Nutrition, Genetics, and Environmental Risk Exposure, Nancy University Medical School, and Department of Pediatrics and Clinical Genetics, University Hospital of Nancy, Vandoeuvre lès Nancy, France.

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January 2011

A new mutation in COG7 extends the spectrum of COG subunit deficiencies.

Eur J Med Genet 2009 Sep-Oct;52(5):303-5. Epub 2009 Jul 3.

Department of Paediatrics, University Hospitals Leuven, Leuven BE-3000, Belgium.

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November 2009

Abnormal expression of truncated CRMP-1 protein in the brain cortex of MPSIIIB mice.

Mol Genet Metab 2008 May 5;94(1):135-8. Epub 2008 Mar 5.

INSERM, U842, Université de Lyon, Lyon1, UMR-S842, Faculté de Médecine Laennec, Lyon F-69372, France.

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May 2008