Hasil Pencarian - David Cheillan
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Screening of Wilson’s disease in a psychiatric population: difficulties and pitfalls. A preliminary study oleh Caroline Demily, François Parant, David Cheillan, Emmanuel Broussolle, Alice Pavec, Olivier Guillaud, Lioara Restier, MOPSY Consortium, Alain Lachaux, Muriel Bost
Diterbitkan 2017-04-01Dapatkan teks lengkap
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Intestinal absorption of sphingosine: new insights on generated ceramide species using stable isotope tracing in vitro oleh Catherine Calzada, David Cheillan, Nina Ritsch, Cécile Vors, Annie Durand, Sandra Pesenti, Magali Pettazzoni, Emmanuelle Meugnier, Marie-Caroline Michalski, Armelle Penhoat
Diterbitkan 2024-06-01Dapatkan teks lengkap
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Application of a Novel Algorithm for Expanding Newborn Screening for Inherited Metabolic Disorders across Europe oleh 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
Diterbitkan 2022-03-01Dapatkan teks lengkap
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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... oleh 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
Diterbitkan 2023-02-01Dapatkan teks lengkap
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A New Approach to Objectively Evaluate Inherited Metabolic Diseases for Inclusion on Newborn Screening Programmes oleh 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
Diterbitkan 2022-03-01Dapatkan teks lengkap
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Early neurodegeneration progresses independently of microglial activation by heparan sulfate in the brain of mucopolysaccharidosis IIIB mice. oleh 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
Diterbitkan 2008-05-01Dapatkan teks lengkap
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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. oleh 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
Diterbitkan 2017-01-01Dapatkan teks lengkap
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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 oleh 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
Diterbitkan 2023-02-01Dapatkan teks lengkap
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Towards Achieving Equity and Innovation in Newborn Screening across Europe oleh 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
Diterbitkan 2022-05-01Dapatkan teks lengkap
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Milk polar lipids favorably alter circulating and intestinal ceramide and sphingomyelin species in postmenopausal women oleh Mélanie Le Barz, Cécile Vors, Emmanuel Combe, Laurie Joumard-Cubizolles, Manon Lecomte, Florent Joffre, Michèle Trauchessec, Sandra Pesenti, Emmanuelle Loizon, Anne-Esther Breyton, Emmanuelle Meugnier, Karène Bertrand, Jocelyne Drai, Chloé Robert, Annie Durand, Charlotte Cuerq, Patrice Gaborit, Nadine Leconte, Annick Bernalier-Donadille, Eddy Cotte, Martine Laville, Stéphanie Lambert-Porcheron, Lemlih Ouchchane, Hubert Vidal, Corinne Malpuech-Brugère, David Cheillan, Marie-Caroline Michalski
Diterbitkan 2021-05-01Dapatkan teks lengkap
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Neonatal Screening in Europe Revisited: An ISNS Perspective on the Current State and Developments Since 2010 oleh 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
Diterbitkan 2021-03-01Dapatkan teks lengkap
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