Resultados da busca - David Cheillan

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  1. 1
    Role of circulating sphingolipids in lipid metabolism: Why dietary lipids matter

    Role of circulating sphingolipids in lipid metabolism: Why dietary lipids matter por Catherine Calzada, Cécile Vors, Armelle Penhoat, David Cheillan, Marie‐Caroline Michalski

    Publicado em 2023
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  2. 2
    Sphingolipid-mediated inflammatory signaling leading to autophagy inhibition converts erythropoiesis to myelopoiesis in human hematopoietic stem/progenitor cells

    Sphingolipid-mediated inflammatory signaling leading to autophagy inhibition converts erythropoiesis to myelopoiesis in human hematopoietic stem/progenitor cells por Marion Orsini, Sébastien Chateauvieux, Jiyun Rhim, Anthoula Gaigneaux, David Cheillan, Christo Christov, Mario Dicato, Franck Morceau, Marc Diederich

    Publicado em 2018
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  3. 3
    Early Neurodegeneration Progresses Independently of Microglial Activation by Heparan Sulfate in the Brain of Mucopolysaccharidosis IIIB Mice

    Early Neurodegeneration Progresses Independently of Microglial Activation by Heparan Sulfate in the Brain of Mucopolysaccharidosis IIIB Mice por Jérôme Ausseil, Nathalie Desmaris, Stéphanie Bigou, Ruben Attali, Sébastien Corbineau, Sandrine Vitry, Mathieu Parent, David Cheillan, Maria Fuller, Irène Maire, Marie‐Thérèse Vanier, Jean‐Michel Heard

    Publicado em 2008
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  4. 4
    TNF-α- and tumor-induced skeletal muscle atrophy involves sphingolipid metabolism

    TNF-α- and tumor-induced skeletal muscle atrophy involves sphingolipid metabolism por Joffrey De Larichaudy, Alessandra Zufferli, Filippo Serra, Andrea M. Isidori, Fabio Naro, Kévin Dessalle, Marine Desgeorges, Monique Piraud, David Cheillan, Hubert Vidal, Étienne Lefai, Georges Némoz

    Publicado em 2012
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  5. 5
    Milk Polar Lipids Affect In Vitro Digestive Lipolysis and Postprandial Lipid Metabolism in Mice

    Milk Polar Lipids Affect In Vitro Digestive Lipolysis and Postprandial Lipid Metabolism in Mice por Manon Lecomte, Claire Bourlieu‐Lacanal, Emmanuelle Meugnier, Armelle Penhoat, David Cheillan, Gaëlle Pineau, Emmanuelle Loizon, Michèle Trauchessec, Mathilde Claude, Olivia Ménard, Alain Géloën, Fabienne Laugerette, Marie‐Caroline Michalski

    Publicado em 2015
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  6. 6
    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

    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 por Magali Pettazzoni, Roseline Froissart, Cécile Pagan, Marie T. Vanier, Séverine Ruet, Philippe Latour, Nathalie Guffon, Alain Fouilhoux, Dominique P. Germain, Thierry Levade, Christine Vianey‐Saban, Monique Piraud, David Cheillan

    Publicado em 2017
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  7. 7
    Steroid Profiling by Tandem Mass Spectrometry Improves the Positive Predictive Value of Newborn Screening for Congenital Adrenal Hyperplasia

    Steroid Profiling by Tandem Mass Spectrometry Improves the Positive Predictive Value of Newborn Screening for Congenital Adrenal Hyperplasia por Carla Minutti, Jean M. Lacey, Mark J Magera, Si Houn Hahn, Mark McCann, Andreas Schulze, David Cheillan, C. Dorche, Donald H. Chace, James Lymp, Donald Zimmerman, Piero Rinaldo, Dietrich Matern

    Publicado em 2004
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  8. 8
    Polar lipid composition of bioactive dairy co-products buttermilk and butterserum: Emphasis on sphingolipid and ceramide isoforms

    Polar lipid composition of bioactive dairy co-products buttermilk and butterserum: Emphasis on sphingolipid and ceramide isoforms por Claire Bourlieu‐Lacanal, David Cheillan, Marielle Blot, Patricia Daira, Michèle Trauchessec, Séverine Ruet, Jean-Yves Gassi, Eric Beaucher, Benoît Robert, Nadine Leconte, Saı̈d Bouhallab, Frédéric Gaucheron, Geneviève Gésan-Guiziou, Marie‐Caroline Michalski

    Publicado em 2017
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  9. 9
    ISNS General Guidelines for Neonatal Bloodspot Screening 2025

    ISNS General Guidelines for Neonatal Bloodspot Screening 2025 por Dianne Webster, Amy Gaviglio, Aysha Habib Khan, Mei Baker, David Cheillan, Layachi Chabraoui, Ghassan Abdoh, Juan Francisco Cabello, Roberto Giugliani, Dimitris Platis, Jan Østrup, R. Rodney Howell, Peter C. J. I. Schielen, James R. Bonham

    Publicado em 2025
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  10. 10
    Towards Achieving Equity and Innovation in Newborn Screening across Europe

    Towards Achieving Equity and Innovation in Newborn Screening across Europe por Jaka Šikonja, Urh Grošelj, Maurizio Scarpa, Giancarlo la Marca, David Cheillan, Stefan Kölker, Rolf Zetterström, Viktor Kožich, Yann Le Cam, Gulcin Gumus, V. Bottarelli, Mirjam van der Burg, Eugènie Dekkers, Tadej Battelino, Johan Prevot, Peter C. J. I. Schielen, James R. Bonham

    Publicado em 2022
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  11. 11
    TMEM165 Deficiency Causes a Congenital Disorder of Glycosylation

    TMEM165 Deficiency Causes a Congenital Disorder of Glycosylation por François Foulquier, Mustapha Amyere, Jaak Jaeken, Renate Zeevaert, Els Schollen, Valérie Race, Riet Bammens, Willy Morelle, Claire Rosnoblet, Dominique Legrand, Didier Demaegd, Neil R.M. Buist, David Cheillan, Nathalie Guffon, Pierre Morsomme, Willem Annaert, Hudson H. Freeze, Emile Van Schaftingen, Miikka Vikkula, Gert Matthijs

    Publicado em 2012
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  12. 12
    Milk Polar Lipids in a High‐Fat Diet Can Prevent Body Weight Gain: Modulated Abundance of Gut Bacteria in Relation with Fecal Loss of Specific Fatty Acids

    Milk Polar Lipids in a High‐Fat Diet Can Prevent Body Weight Gain: Modulated Abundance of Gut Bacteria in Relation with Fecal Loss of Specific Fatty Acids por Marine Milard, Fabienne Laugerette, Annie Durand, Charline Buisson, Emmanuelle Meugnier, Emmanuelle Loizon, Corinne Louche‐Pélissier, Valérie Sauvinet, Lorna Garnier, Sébastien Viel, Karène Bertrand, Florent Joffre, David Cheillan, Lydie Humbert, Dominique Rainteau, Pascale Plaisancié, Laure B. Bindels, Audrey M. Neyrinck, Nathalie M. Delzenne, Marie‐Caroline Michalski

    Publicado em 2019
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  13. 13
    Neuroinflammation, mitochondrial defects and neurodegeneration in mucopolysaccharidosis III type C mouse model

    Neuroinflammation, mitochondrial defects and neurodegeneration in mucopolysaccharidosis III type C mouse model por C Martins, Helena Hůlková, Larbi Dridi, Virginie Dormoy-Raclet, Lubov Grigoryeva, Yoo Choi, Alex Langford-Smith, Fiona L. Wilkinson, Kazuhiro Ohmi, Graziella DiCristo, Édith Hamel, Jérôme Ausseil, David Cheillan, Alain Moreau, Eva Svobodová, Zuzana Hájková, Markéta Tesařová, Hana Hansíková, Brian Bigger, Martin Hřebı́ček, Alexey V. Pshezhetsky

    Publicado em 2015
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  14. 14
    A pseudoautosomal glycosylation disorder prompts the revision of dolichol biosynthesis

    A pseudoautosomal glycosylation disorder prompts the revision of dolichol biosynthesis por Matthew P. Wilson, Takfarinas Kentache, Charlotte R. Althoff, Céline Schulz, Geoffroy de Bettignies, Garcia Patricia Cabrera, Loreta Cimbalistienė, Birutė Burnytė, Grace Yoon, Gregory Costain, Sandrine Vuillaumier‐Barrot, David Cheillan, Daisy Rymen, Lucie Rychtárová, Hana Hansíková, Marina Bury, Joseph P. Dewulf, Francesco Caligiore, Jaak Jaeken, Vincent Cantagrel, Emile Van Schaftingen, Gert Matthijs, François Foulquier, Guido T. Bommer

    Publicado em 2024
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  15. 15
    Milk polar lipids reduce lipid cardiovascular risk factors in overweight postmenopausal women: towards a gut sphingomyelin-cholesterol interplay

    Milk polar lipids reduce lipid cardiovascular risk factors in overweight postmenopausal women: towards a gut sphingomyelin-cholesterol interplay por Cécile Vors, Laurie Joumard‐Cubizolles, Manon Lecomte, Emmanuel Combe, Lemlih Ouchchane, Jocelyne Drai, Ketsia Raynal, Florent Joffre, Laure Meiller, Mélanie Le Barz, Patrice Gaborit, A. Caillé, Monique Sothier, Carla Domingues-Faria, Adeline Blot, Aurélie Wauquier, Emilie Blond, Valérie Sauvinet, Geneviève Gésan-Guiziou, Jean-Pierre Bodin, Philippe Moulin, David Cheillan, Hubert Vidal, Béatrice Morio, Eddy Cotte, Françoise Morel-Laporte, Martine Laville, Annick Bernalier‐Donadille, S. Lambert-Porcheron, Corinne Malpuech‐Brugère, Marie‐Caroline Michalski

    Publicado em 2019
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  16. 16
    CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation

    CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation por Jos C. Jansen, Sebahattin Çirak, Monique van Scherpenzeel, Sharita Timal, Janine Reunert, Stephan Rust, Belén Pérez, Dorothée Vicogne, Peter Krawitz, Yoshinao Wada, Angel Ashikov, Celia Pérez‐Cerdá, Celia Medrano, Andrea Arnoldy, Alexander Hoischen, Karin Huijben, Gerry Steenbergen, Dulce Quelhas, Luísa Diogo, Daisy Rymen, Jaak Jaeken, Nathalie Guffon, David Cheillan, Lambertus P. van den Heuvel, Yusuke Maeda, Olaf Kaiser, Ulrike Schara, Patrick Gerner, Marjolein A.W. van den Boogert, Adriaan G. Holleboom, Marie‐Cécile Nassogne, Étienne Sokal, Jody Salomon, Geert van den Bogaart, Joost P.H. Drenth, Martijn A. Huynen, Joris A. Veltman, Ron A. Wevers, Éva Morava, Gert Matthijs, François Foulquier, Thorsten Marquardt, Dirk J. Lefeber

    Publicado em 2016
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  17. 17
    Neonatal Screening in Europe Revisited: An ISNS Perspective on the Current State and Developments Since 2010

    Neonatal Screening in Europe Revisited: An ISNS Perspective on the Current State and Developments Since 2010 por J.G. Loeber, Dimitris Platis, Rolf Zetterström, Shlomo Almashanu, François Boemer, James R. Bonham, Patricia Borde, Ian Brincat, David Cheillan, Eugènie Dekkers, Dobry Dimitrov, Ralph Fingerhut, Leifur Franzson, Urh Grošelj, David M. Hougaard, Mária Knapková, Mirjana Koc̆ova, Vjosa Kotori, Viktor Kožich, A. Kremezna, Riikka Kurkijärvi, Giancarlo la Marca, Ruth Mikelsaar, Tatjana Milenković, V. M. Mit'kin, Florentina Moldovanu, Uta Ceglarek, Loretta O’Grady, Mariusz Ołtarzewski, Rolf D. Pettersen, Danijela Petković Ramadža, Damilya Salimbayeva, Mira Samardžić, Markhabo Shamsiddinova, Jurgita Songailienė, Ildikó Szatmári, Nazi Tabatadze, Başak Tezel, Alma Toromanović, Irina Tovmasyan, Uşurelu Natalia, Pārsla Vēvere, Laura Vilarinho, Marios Vogazianos, Raquel Yahyaoui, Maximilian Zeyda, Peter C. J. I. Schielen

    Publicado em 2021
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  18. 18
    Phenotype and genotype in 101 males with X-linked creatine transporter deficiency

    Phenotype and genotype in 101 males with X-linked creatine transporter deficiency por Jiddeke M. van de Kamp, Ofir T. Betsalel, Saadet Mercimek‐Mahmutoglu, Lara Abulhoul, Stephanie Grünewald, Irina Anselm, Hatem Azzouz, Drago Bratkovic, Arjan de Brouwer, Ben C.J. Hamel, Tjitske Kleefstra, Helger G. Yntema, Jaume Campistol, Marta Vilaseca, David Cheillan, Marc D’Hooghe, Luísa Diogo, Paula Garcia, Carla Valongo, Maria José Fonseca, Suzanna G.M. Frints, Bridget Wilcken, Sigrun von der Haar, Hanne Meijers‐Heijboer, Floris C. Hofstede, Diana Johnson, Sarina G. Kant, Laurence Lion‐François, G. Pitelet, Nicola Longo, J A Maat-Kievit, João Monteiro, Arnold Münnich, Ania C. Muntau, Marie‐Cécile Nassogne, Hitoshi Osaka, Katrin Õunap, Jean-Marc Pinard, Susana Quijano‐Roy, I Poggenburg, Nicola Poplawski, Omar Abdul‐Rahman, Antònia Ribes, Ángela Arias, Joy Yaplito‐Lee, Andreas Schulze, Charles E. Schwartz, Susanne Schwenger, G. Soares, Yves Sznajer, Vassili Valayannopoulos, Hilde Van Esch, Stephan Waltz, Mirjam M. C. Wamelink, Petra J. W. Pouwels, Abdellatif Errami, Marjo S. van der Knaap, C. Jakobs, Grazia M.S. Mancini, Gajja S. Salomons

    Publicado em 2013
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  19. 19
    Enhanced interpretation of newborn screening results without analyte cutoff values

    Enhanced interpretation of newborn screening results without analyte cutoff values por Gregg Marquardt, Robert J. Currier, David McHugh, Dimitar Gavrilov, Mark J Magera, Dietrich Matern, Devin Oglesbee, Kimiyo Raymond, Piero Rinaldo, Emily H. Smith, Silvia Tortorelli, Coleman Turgeon, Fred Lorey, Bridget Wilcken, Veronica Wiley, Lawrence 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 Horník, Iman Mandour, Sahar Sharaf, Olaf A. 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, Jón J. Jónsson, Nancy N. Breen, Barbara G. Lesko, Stanton L. Berberich, Kimberley Turner, Margherita Ruoppolo, Emanuela Scolamiero, I. Antonozzi, Claudia Carducci, Ubaldo Caruso, Michela Cassanello, Giancarlo la Marca, Elisabetta Pasquini, Iole Maria Di Gangi, Giuseppe Giordano, Marta Camilot, Francesca Teofoli, Shawn 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, Rosário Torres, Mary Seeterlin, Eleanor 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 McClure, David E. Sesser

    Publicado em 2012
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  20. 20
    Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: A worldwide collaborative project

    Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: A worldwide collaborative project por David McHugh, Cynthia A. Cameron, José E. Abdenur, Mahera Abdulrahman, Ona O. Adair, Shahira Ahmed Al Nuaimi, Henrik Åhlman, Jennifer J. Allen, I. Antonozzi, Shaina Archer, Sylvia Mann 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, 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, José Ángel Cocho de Juan, Maria Elena Colandre, Veronica Cornejo Espinoza, Gaetano Corso, Robert J. Currier, Denis Cyr, Noémi Czuczy, Oceania D’Apolito, Tim D. Davis, Monique G. de Sain-van der Velden, Carmen lgado De 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 B. 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, Lawrence Greed, Robert E. 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 Hoffman, William H. Hoffman, Philis Hoggatt, Patrick V. Hopkins, David M. Hougaard, Kerie Hughes, Patricia Hunt, Wuh‐Liang Hwu, June Hynes

    Publicado em 2011
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