Search Results - David Cheillan

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

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An ALG12-CDG patient with a novel homozygous intronic mutation associated with low ALG12 mRNA by Sandrine Vuillaumier-Barrot, Thierry Dupré, Tiffany Andriantsihoarana, Vincent Desportes, David Cheillan, Stuart E. H. Moore, Isabelle Chantret

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Screening of Wilson’s disease in a psychiatric population: difficulties and pitfalls. A preliminary study by Caroline Demily, François Parant, David Cheillan, Emmanuel Broussolle, Alice Pavec, Olivier Guillaud, Lioara Restier, MOPSY Consortium, Alain Lachaux, Muriel Bost

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Intestinal absorption of sphingosine: new insights on generated ceramide species using stable isotope tracing in vitro by Catherine Calzada, David Cheillan, Nina Ritsch, Cécile Vors, Annie Durand, Sandra Pesenti, Magali Pettazzoni, Emmanuelle Meugnier, Marie-Caroline Michalski, Armelle Penhoat

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Application of a Novel Algorithm for Expanding Newborn Screening for Inherited Metabolic Disorders across Europe by Simon A. Jones, David Cheillan, Anupam Chakrapani, Heather J. Church, Simon Heales, Teresa H. Y. Wu, Georgina Morton, Patricia Roberts, Erica F. Sluys, Alberto Burlina

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Reply to Maase et al. Comment on “Jones et al. Application of a Novel Algorithm for Expanding Newborn Screening for Inherited Metabolic Disorders across Europe. <i>Int. J. Neonatal... by Simon A. Jones, David Cheillan, Anupam Chakrapani, Heather J. Church, Simon Heales, Teresa H. Y. Wu, Georgina Morton, Patricia Roberts, Erica F. Sluys, Alberto Burlina

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A New Approach to Objectively Evaluate Inherited Metabolic Diseases for Inclusion on Newborn Screening Programmes by Alberto Burlina, Simon A. Jones, Anupam Chakrapani, Heather J. Church, Simon Heales, Teresa H. Y. Wu, Georgina Morton, Patricia Roberts, Erica F. Sluys, David Cheillan

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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 by 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

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Evaluation of a New Tandem Mass Spectrometry Method for Sickle Cell Disease Newborn Screening by Céline Renoux, Estelle Roland, Séverine Ruet, Sarah Zouaghi, Marie Michel, Philippe Joly, Cécile Feray, Fanny Zhao, Déborah Gavanier, Pascal Gaucherand, Fanny Roumieu, Giovanna Cannas, Salima Merazga, Philippe Connes, Gilles Renom, Jérôme Massardier, David Cheillan

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

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

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Neonatal Screening in Europe Revisited: An ISNS Perspective on the Current State and Developments Since 2010 by J. Gerard Loeber, Dimitris Platis, Rolf H. Zetterström, Shlomo Almashanu, François Boemer, James R. Bonham, Patricia Borde, Ian Brincat, David Cheillan, Eugenie Dekkers, Dobry Dimitrov, Ralph Fingerhut, Leifur Franzson, Urh Groselj, David Hougaard, Maria Knapkova, Mirjana Kocova, Vjosa Kotori, Viktor Kozich, Anastasiia Kremezna, Riikka Kurkijärvi, Giancarlo La Marca, Ruth Mikelsaar, Tatjana Milenkovic, Vyacheslav Mitkin, Florentina Moldovanu, Uta Ceglarek, Loretta O'Grady, Mariusz Oltarzewski, Rolf D. Pettersen, Danijela Ramadza, Damilya Salimbayeva, Mira Samardzic, Markhabo Shamsiddinova, Jurgita Songailiené, Ildiko Szatmari, Nazi Tabatadze, Basak Tezel, Alma Toromanovic, Irina Tovmasyan, Natalia Usurelu, Parsla Vevere, Laura Vilarinho, Marios Vogazianos, Raquel Yahyaoui, Maximilian Zeyda, Peter C.J.I. Schielen

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PERIGENOMED-CLINICS 1—the first study on feasibility, acceptability and psychosocial impact of PERIGENOMED: a pilot project aimed at providing initial concrete evidence on the rele... by Laurence Faivre, Sylvie Odent, Laurent Pasquier, David Cheillan, Sandra Mercier, Mathilde Nizon, Juliette Piard, Christine Binquet, Martin Chevarin, Yannis Duffourd, Paul Kuentz, Frédéric Huet, Ange-Line Bruel, Christel Thauvin-Robinet, Alban Ziegler, Estelle Colin, Paul Rollier, Nicolas Mottet, Stéphane Bezieau, Richard Redon, Jean-Baptiste Arnoux, Brigitte Chabrol, Emilie Tisserant, Anne-Sophie Jannot, Frédéric Tran-Mau-Them, Amir Hassine, Caroline Racine, Hana Safraou, Maud Carpentier, Camille Level, Emeline Davoine, Margot Lemaitre, Dominique Salvi, Emmanuelle Lecommandeur, Amandine Charreton, Marie de Tayrac, Julien Barc, Sebatien Schmitt, Coline Cormier, Marlène Malbos, Véronique Tardy, Celine Bris, Léa Gaudillat, Virginie Loizeau, Camille Lenelle, Emmanuel Simon, Catherine Renaud, Catherine Lejeune, Marie-Laure Asensio

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