Showing 321 - 340 results of 442 for search '"International Journal of Neonatal Screening"', query time: 0.67s Refine Results
  1. 321
    The Timely Needs for Infantile Onset Pompe Disease Newborn Screening—Practice in Taiwan

    The Timely Needs for Infantile Onset Pompe Disease Newborn Screening—Practice in Taiwan by Shu-Chuan Chiang, Yin-Hsiu Chien, Kai-Ling Chang, Ni-Chung Lee, Wuh-Liang Hwu

    Published 2020-04-01
    “…International Journal of Neonatal Screening…”
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  2. 322
    Cystic Fibrosis Cases Missed by Newborn Bloodspot Screening—Towards a Consistent Definition and Data Acquisition

    Cystic Fibrosis Cases Missed by Newborn Bloodspot Screening—Towards a Consistent Definition and Data Acquisition by Anne Munck, Kevin W. Southern, Jared Murphy, Karin M. de Winter-de Groot, Silvia Gartner, Bülent Karadag, Nataliya Kashirskaya, Barry Linnane, Marijke Proesmans, Dorota Sands, Olaf Sommerburg, Carlo Castellani, Jürg Barben

    Published 2023-11-01
    “…International Journal of Neonatal Screening…”
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  3. 323
    Newborn Screening for Cystic Fibrosis: Over the Hump, Still Need to Fine-Tune It

    Newborn Screening for Cystic Fibrosis: Over the Hump, Still Need to Fine-Tune It by Carlo Castellani

    Published 2020-07-01
    “…International Journal of Neonatal Screening…”
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  4. 324
    Technical Study of Automated High-Throughput High-Sensitive Ceruloplasmin Assay on Dried Blood Spots—Reinstate the Potential Use for Newborn Screening of Wilson Disease

    Technical Study of Automated High-Throughput High-Sensitive Ceruloplasmin Assay on Dried Blood Spots—Reinstate the Potential Use for Newborn Screening of Wilson Disease by Chloe Miu Mak, Ching Tung Choi, Tsz Ki Wong, Hanson Heearn Chin, Hillman Kai Yin Lai, Koon Yu Yuet

    Published 2022-12-01
    “…International Journal of Neonatal Screening…”
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  5. 325
    Parental Awareness, Knowledge, and Attitudes Regarding Current and Future Newborn Bloodspot Screening: The First Report from Thailand

    Parental Awareness, Knowledge, and Attitudes Regarding Current and Future Newborn Bloodspot Screening: The First Report from Thailand by Kalyarat Wilaiwongsathien, Duangrurdee Wattanasirichaigoon, Sasivimol Rattanasiri, Chanatpon Aonnuam, Chayada Tangshewinsirikul, Thipwimol Tim-Aroon

    Published 2023-05-01
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  6. 326
    Fibroblast Fatty-Acid Oxidation Flux Assays Stratify Risk in Newborns with Presumptive-Positive Results on Screening for Very-Long Chain Acyl-CoA Dehydrogenase Deficiency

    Fibroblast Fatty-Acid Oxidation Flux Assays Stratify Risk in Newborns with Presumptive-Positive Results on Screening for Very-Long Chain Acyl-CoA Dehydrogenase Deficiency by Simon E. Olpin, Shirley Clark, Jane Dalley, Brage S. Andresen, Joanne Croft, Camilla A. Scott, Aneal Khan, Richard J. Kirk, Rebecca Sparkes, Marisa Chard, Alicia Chan, Emma Glamuzina, Jean Bastin, Nigel J. Manning, Rodney J. Pollitt

    Published 2017-02-01
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  7. 327
    Translating Molecular Technologies into Routine Newborn Screening Practice

    Translating Molecular Technologies into Routine Newborn Screening Practice by Sarah M. Furnier, Maureen S. Durkin, Mei W. Baker

    Published 2020-10-01
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  8. 328
    Neonatal Screening on Tandem Mass Spectrometry as a Powerful Tool for the Reassessment of the Prevalence of Underestimated Diseases in Newborns and Their Family Members: A Focus on Short Chain Acyl-CoA Dehydrogenase Deficiency

    Neonatal Screening on Tandem Mass Spectrometry as a Powerful Tool for the Reassessment of the Prevalence of Underestimated Diseases in Newborns and Their Family Members: A Focus on... by MariaAnna Messina, Alessia Arena, Agata Fiumara, Riccardo Iacobacci, Concetta Meli, Federica Raudino

    Published 2020-07-01
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  9. 329
    Province-Wide Stool Color Card Screening for Biliary Atresia in Lower-Saxony: Experiences with Passive Distribution Strategies and Results

    Province-Wide Stool Color Card Screening for Biliary Atresia in Lower-Saxony: Experiences with Passive Distribution Strategies and Results by Omid Madadi-Sanjani, Joachim F. Kuebler, Marie Uecker, Eva-Doreen Pfister, Ulrich Baumann, Berit Kunze-Hullmann, Jochen Blaser, Thomas Buck, Claus Petersen

    Published 2021-11-01
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  10. 330
    Implementation of Newborn Screening for Conditions in the United States First Recommended during 2010–2018

    Implementation of Newborn Screening for Conditions in the United States First Recommended during 2010–2018 by Sikha Singh, Jelili Ojodu, Alex R. Kemper, Wendy K. K. Lam, Scott D. Grosse

    Published 2023-04-01
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  11. 331
    A Voluntary Statewide Newborn Screening Pilot for Spinal Muscular Atrophy: Results from Early Check

    A Voluntary Statewide Newborn Screening Pilot for Spinal Muscular Atrophy: Results from Early Check by Katerina S. Kucera, Jennifer L. Taylor, Veronica R. Robles, Kristin Clinard, Brooke Migliore, Beth Lincoln Boyea, Katherine C. Okoniewski, Martin Duparc, Catherine W. Rehder, Scott M. Shone, Zheng Fan, Melissa Raspa, Holly L. Peay, Anne C. Wheeler, Cynthia M. Powell, Donald B. Bailey, Lisa M. Gehtland

    Published 2021-03-01
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  12. 332
    National Program for External Quality Assessment of Chinese Newborn Screening Laboratories

    National Program for External Quality Assessment of Chinese Newborn Screening Laboratories by Yuxuan Du, Wei Wang, Jiali Liu, Zhixin Zhang, Zhen Zhao, Falin He, Shuai Yuan, Zhiguo Wang

    Published 2020-05-01
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  13. 333
    Newborn Critical Congenital Heart Disease Screening Using Pulse Oximetry: Value and Unique Challenges in Developing Regions

    Newborn Critical Congenital Heart Disease Screening Using Pulse Oximetry: Value and Unique Challenges in Developing Regions by Lisa A. Hom, Gerard R. Martin

    Published 2020-09-01
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  14. 334
    Newborn Screening for Primary T- and B-Cell Immune Deficiencies—A Prospective Study in Andalucía

    Newborn Screening for Primary T- and B-Cell Immune Deficiencies—A Prospective Study in Andalucía by Beatriz de Felipe, Peter Olbrich, Walter Goycochea-Valdivia, Carmen Delgado-Pecellin, Paula Sanchez-Moreno, Berta Sánchez, José Manuel Lucena, Araceli Ferrari-Cortes, Joséfa Salguero Martin de Soto, Josefina Marquez, Carmen Salamanca, Carlos Jimenez Contreras, Olaf Neth

    Published 2017-10-01
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  15. 335
    Multiple 17-OHP Cutoff Co-Variates Fail to Improve 21-Hydroxylase Deficiency Screening Accuracy

    Multiple 17-OHP Cutoff Co-Variates Fail to Improve 21-Hydroxylase Deficiency Screening Accuracy by Preet K. Matharu, Patrice K. Held, David B. Allen

    Published 2022-10-01
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  16. 336
    Current Methods of Newborn Screening Follow-Up for Sickle Cell Disease Are Highly Variable and without Quality Assurance: Results from the ENHANCE Study

    Current Methods of Newborn Screening Follow-Up for Sickle Cell Disease Are Highly Variable and without Quality Assurance: Results from the ENHANCE Study by Najibah Galadanci, Shannon Phillips, Alyssa Schlenz, Nataliya Ivankova, Julie Kanter

    Published 2024-03-01
    “…International Journal of Neonatal Screening…”
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  17. 337
    Newborn Screening for Cystic Fibrosis in Russia: A Catalyst for Improved Care

    Newborn Screening for Cystic Fibrosis in Russia: A Catalyst for Improved Care by Victoria Sherman, Elena Kondratyeva, Nataliya Kashirskaya, Anna Voronkova, Victoria Nikonova, Elena Zhekaite, Sergey Kutsev

    Published 2020-04-01
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  18. 338
    Newborn Screening Protocols and Positive Predictive Value for Congenital Adrenal Hyperplasia Vary across the United States

    Newborn Screening Protocols and Positive Predictive Value for Congenital Adrenal Hyperplasia Vary across the United States by Phyllis W. Speiser, Reeti Chawla, Ming Chen, Alicia Diaz-Thomas, Courtney Finlayson, Meilan M. Rutter, David E. Sandberg, Kim Shimy, Rashida Talib, Jane Cerise, Eric Vilain, Emmanuèle C. Délot

    Published 2020-05-01
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  19. 339
    Neonatal Screening for Sickle Cell Disease in Belgium for More than 20 Years: An Experience for Comprehensive Care Improvement

    Neonatal Screening for Sickle Cell Disease in Belgium for More than 20 Years: An Experience for Comprehensive Care Improvement by Béatrice Gulbis, Phu-Quoc Lê, Olivier Ketelslegers, Marie-Françoise Dresse, Anne-Sophie Adam, Frédéric Cotton, François Boemer, Vincent Bours, Jean-Marc Minon, Alina Ferster

    Published 2018-11-01
    “…International Journal of Neonatal Screening…”
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  20. 340
    Determining Reference Ranges for Total T<sub>4</sub> in Dried Blood Samples for Newborn Screening

    Determining Reference Ranges for Total T<sub>4</sub> in Dried Blood Samples for Newborn Screening by Anna-Isabella Hijman, Daniel Konrad, Ralph Fingerhut

    Published 2020-03-01
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