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Cystic Fibrosis Newborn Screening: A Systematic Review-Driven Consensus Guideline from the United States Cystic Fibrosis Foundation
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Meghan E. McGarry, Karen S. Raraigh, Philip Farrell, Faith Shropshire, Karey Padding, Cambrey White, M. Christine Dorley, Steven Hicks, Clement L. Ren, Kathryn Tullis, Debra Freedenberg, Q. Eileen Wafford, Sarah E. Hempstead, Marissa A. Taylor, Albert Faro, Marci K. Sontag and Susanna A. McColley
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Consolidated Newborn Bloodspot Screening Efforts in Developing Countries in the Asia Pacific—2024
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Bradford L. Therrell, Carmencita D. Padilla, Michelle E. Abadingo, Shree Prasad Adhikari, Thuza Aung, Thet Thet Aye, Sanjoy Kumer Dey, Muhammad Faizi, Erdenetuya Ganbaatar, Tran Thi Huong Giang, Hoang Thu Hang, Rathmony Heng, Seema Kapoor, Khurelbaatar Nyamdavaa, Prajwal Paudel, Kimyi Phou, Aman B. Pulungan, Chittaphone Sayyavong, Salimah R. Walani and Tariq Zafar
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Outcomes of a Pilot Newborn Screening Program for Spinal Muscular Atrophy in the Valencian Community
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Alba Berzal-Serrano, Belén García-Bohórquez, Elena Aller, Teresa Jaijo, Inmaculada Pitarch-Castellano, Dolores Rausell, Gema García-García and José M. Millán
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Evaluation of Neonatal Screening Programs for Tyrosinemia Type 1 Worldwide
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Allysa M. Kuypers, Marelle J. Bouva, J. Gerard Loeber, Anita Boelen, Eugenie Dekkers, Konstantinos Petritis, C. Austin Pickens, The ISNS Representatives, Francjan J. van Spronsen and M. Rebecca Heiner-Fokkema
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Newborn Screening by DNA-First: Systematic Evaluation of the Eligibility of Inherited Metabolic Disorders Based on Treatability
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Abigail Veldman, Birgit Sikkema-Raddatz, Terry G. J. Derks, Clara D. M. van Karnebeek, M. B. Gea Kiewiet, Margaretha F. Mulder, Marcel R. Nelen, M. Estela Rubio-Gozalbo, Richard J. Sinke, Monique G. de Sain-van der Velden, Gepke Visser, Maaike C. de Vries, Dineke Westra, Monique Williams, Ron A. Wevers, M. Rebecca Heiner-Fokkema and Francjan J. van Spronsen
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Newborn Screening for Sickle Cell Disease: Results from a Pilot Study in the Portuguese Population
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Diogo Rodrigues, Ana Marcão, Lurdes Lopes, Ana Ventura, Teresa Faria, Anabela Ferrão, Carolina Gonçalves, Paula Kjöllerström, Ana Castro, Sofia Fraga, Marta Almeida, Tabita Maia, João Gomes, Ana Lachado, Isabel Guerra, Fátima Ferreira, Fernanda Trigo, Celeste Bento and Laura Vilarinho
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Newborn Screening for Gaucher Disease: Parental Stress and Psychological Burden
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Chiara Cazzorla, Vincenza Gragnaniello, Giacomo Gaiga, Daniela Gueraldi, Andrea Puma, Christian Loro, Giada Benetti, Rossana Schiavo, Elena Porcù, Alessandro P. Burlina and Alberto B. Burlina
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Expanded Newborn Screening in Italy: The First Report of Lombardy Region
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Clarissa Berardo, Alessandra Vasco, Alessia Mauri, Simona Lucchi, Laura Cappelletti, Laura Saielli, Manuela Rizzetto, Davide Biganzoli, Cristina Montrasio, Diana Postorivo, Michela Perrone Donnorso, Elisa Pratiffi, Andrea Meta, Stephana Carelli, Alessandro Amorosi, Sabrina Paci, Graziella Cefalo, Francesca Furlan, Francesca Menni, Serena Gasperini, Viola Crescitelli, Giuseppe Banderali, Gianvincenzo Zuccotti, Luisella Alberti and Cristina Ceredaadd
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Advancing Newborn Screening in Washington State: A Novel Multiplexed LC-MS/MS Proteomic Assay for Wilson Disease and Inborn Errors of Immunity
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Claire Klippel, Jiwoon Park, Sean Sandin, Tara M. L. Winstone, Xue Chen, Dennis Orton, Aranjeet Singh, Jonathan D. Hill, Tareq K. Shahbal, Emily Hamacher, Brandon Officer, John Thompson, Phi Duong, Tim Grotzer and Si Houn Hahn
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Does Early Diagnosis and Treatment Alter the Clinical Course of Wolman Disease? Divergent Trajectories in Two Siblings and a Consideration for Newborn Screening
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Maria Jose de Castro Lopez, Fiona J. White, Victoria Holmes, Jane Roberts, Teresa H. Y. Wu, James A. Cooper, Heather J. Church, Gemma Petts, Robert F. Wynn, Simon A. Jones and Arunabha Ghosh
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