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Medium-Chain Acyl-CoA Deficiency: Outlines from Newborn Screening, In Silico Predictions, and Molecular Studies by Serena Catarzi, Anna Caciotti, Janita Thusberg, Rodolfo Tonin, Sabrina Malvagia, Giancarlo la Marca, Elisabetta Pasquini, Catia Cavicchi, Lorenzo Ferri, Maria A. Donati, Federico Baronio, Renzo Guerrini, Sean D. Mooney, Amelia Morrone
Published 2013-01-01Get full text
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Transition in inherited metabolic diseases: the dietitians, pediatricians and adult physicians’ point of view: the results of an Italian survey by Alice Rossi, Chiara Pancaldi, Maria Giulia Regazzi, Giulio Agnelli, Valentina Assirelli, Antonio Barbato, Federico Baronio, Andrea Benso, Silvia Maria Bernabei, Giacomo Biasucci, Mara Botti, Cristina Bonfanti, Andrea Bordugo, Giulia Bruni, Alberto Burlina, Egidio Candela, Maria Teresa Carbone, Rosa Carella, Francesca Carubbi, Annalia Cianflone, Alessandra Cipriani, Silvia Coacci, Giuliana Da Prato, Sabrina De Leo, Valeria Di Natale, Alice Dianin, Carlo Dionisi Vici, Ilaria Fasan, Stefania Ferraro, Massimiliano Filosto, Serena Gasperini, Sara Giorda, Giorgia Gugelmo, Chiara Guzzetti, Concetta Latina, Christian Loro, Evelina Maines, Giacomo Marchi, Elena Massimino, Dorina Mita, Francesca Nardecchia, Davide Noto, Rita Ortolano, Sabrina Paci, Rossella Parini, Sara Parolisi, Giulia Paterno, Lidia Pontillo, Angela Pozzoli, Roberta Pretese, Sara Quattrini, Alice Re Dionigi, Valentina Rovelli, Simona Salera, Ferruccio Santini, Iris Scala, Annalisa Sechi, Claudia Sgattoni, Michele Stecchi, Alessandra Tavian, Antonio Toscano, Albina Tummolo, Maria Letizia Urban, Elena Verrecchia, Nicola Vitturi, Claudia Zuppaldi, Juri Zuvadelli, Lucia Brodosi
Published 2025-05-01Get full text
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Oligogenic analysis across broad phenotypes of 46,XY differences in sex development associated with NR5A1/SF-1 variants: findings from the international SF1next studyResearch in co... by Chrysanthi Kouri, Idoia Martinez de Lapiscina, Rawda Naamneh-Elzenaty, Grit Sommer, Kay-Sara Sauter, Christa E. Flück, Saygin Abali, Zehra Yavas Abali, S. Faisal Ahmed, Leyla Akin, Maricruz Almaraz, Laura Audí, Murat Aydin, Antonio Balsamo, Federico Baronio, Jillian Bryce, Kanetee Busiah, Maria Caimari, Núria Camats-Tarruella, Ariadna Campos-Martorell, Luis Castaño, Anna Casteràs, Semra Çetinkaya, Hedi L. Claahsen - van der Grinten, Martine Cools, Ines Costa, Fatma Feyza Darendeliler, Justin H. Davies, Isabel Esteva, Helena Fabbri-Scallet, Courtney A. Finlayson, Emilio Garcia, Beatriz Garcia- Cuartero, Alina German, Evgenia Globa, Gil Guerra-Junior, Julio Guerrero, Tulay Guran, Sabine E. Hannema, Olaf Hiort, Josephine Hirsch, Ieuan Hughes, Marco Janner, Uchenna Kennedy, Zofia Kolesinska, Katherine Lachlan, Anna Lauber-Biason, Jana Krenek Malikova, Dagmar L’Allemand, Nina Lenhnerr-Taube, Angela Lucas-Herald, Jamala Mammadova, Veronica Mericq, Isabel Mönig, Francisca Moreno, Julia Mührer, Marek Niedziela, Anna Nordenstrom, Burçe Orman, Sukran Poyrazoglu, Jose M. Rial, Meilan M. Rutter, Amaia Rodríguez, Tara Schafer-Kalkhoff, Sumudu Nimali Seneviratne, Maria Sredkova-Ruskova, LIoyd J.W. Tack, Rieko Tadokoro-Cuccaro, Ajay Thankamony, Mónica Tomé, Amaia Vela, Malgorzata Wasniewska, David Zangen, Nataliya Zelinska
Published 2025-03-01Get full text
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