Showing 61 - 80 results of 442 for search '"International Journal of Neonatal Screening"', query time: 0.57s Refine Results
  1. 61
    Establishing Newborn Screening for SCID in the USA: Experience in California

    Establishing Newborn Screening for SCID in the USA: Experience in California by Jennifer M. Puck, Andrew R. Gennery

    Published 2021-10-01
    “…International Journal of Neonatal Screening…”
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  2. 62
    Congenital Critical Heart Defect Screening in a Health Area of the Community of Valencia (Spain): A Prospective Observational Study

    Congenital Critical Heart Defect Screening in a Health Area of the Community of Valencia (Spain): A Prospective Observational Study by Elena Cubells, Begoña Torres, Antonio Nuñez-Ramiro, Manuel Sánchez-Luna, Isabel Izquierdo, Máximo Vento

    Published 2018-01-01
    “…International Journal of Neonatal Screening…”
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  3. 63
    Development of a Model for Quantitative Assessment of Newborn Screening in Japan Using the Analytic Hierarchy Process

    Development of a Model for Quantitative Assessment of Newborn Screening in Japan Using the Analytic Hierarchy Process by Keiko Konomura, Eri Hoshino, Kotomi Sakai, Takashi Fukuda, Go Tajima

    Published 2023-07-01
    “…International Journal of Neonatal Screening…”
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  4. 64
    The Methodological Quality and Challenges in Conducting Economic Evaluations of Newborn Screening: A Scoping Review

    The Methodological Quality and Challenges in Conducting Economic Evaluations of Newborn Screening: A Scoping Review by Pasquale Cacciatore, Laurenske A. Visser, Nasuh Buyukkaramikli, Catharina P. B. van der Ploeg, M. Elske van den Akker-van Marle

    Published 2020-11-01
    “…International Journal of Neonatal Screening…”
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  5. 65
    Challenges in Assessing the Cost-Effectiveness of Newborn Screening: The Example of Congenital Adrenal Hyperplasia

    Challenges in Assessing the Cost-Effectiveness of Newborn Screening: The Example of Congenital Adrenal Hyperplasia by Scott D. Grosse, Guy Van Vliet

    Published 2020-10-01
    “…International Journal of Neonatal Screening…”
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  6. 66
    Diagnosis of Classic Homocystinuria in Two Boys Presenting with Acute Cerebral Venous Thrombosis and Neurologic Dysfunction after Normal Newborn Screening

    Diagnosis of Classic Homocystinuria in Two Boys Presenting with Acute Cerebral Venous Thrombosis and Neurologic Dysfunction after Normal Newborn Screening by Alexander Asamoah, Sainan Wei, Kelly E. Jackson, Joseph H. Hersh, Harvey Levy

    Published 2021-07-01
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  7. 67
    A Rare Case of Malonic Aciduria Diagnosed by Newborn Screening in Qatar

    A Rare Case of Malonic Aciduria Diagnosed by Newborn Screening in Qatar by Mamatha Ramaswamy, Victor Anthony Skrinska, Ghassan Abdoh, Laila Mahmoud Ahmed, Rola Fayez Mitri, Ravi Joshi

    Published 2017-03-01
    “…International Journal of Neonatal Screening…”
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  8. 68
    Implementation of Hospital-Based Supplemental Duchenne Muscular Dystrophy Newborn Screening (sDMDNBS): A Pathway to Broadening Adoption

    Implementation of Hospital-Based Supplemental Duchenne Muscular Dystrophy Newborn Screening (sDMDNBS): A Pathway to Broadening Adoption by Richard B. Parad, Yvonne Sheldon, Arindam Bhattacharjee

    Published 2021-11-01
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  9. 69
    The Use of Saliva Samples to Test for Congenital Cytomegalovirus Infection in Newborns: Examination of False-Positive Samples Associated with Donor Milk Use

    The Use of Saliva Samples to Test for Congenital Cytomegalovirus Infection in Newborns: Examination of False-Positive Samples Associated with Donor Milk Use by Whitney Wunderlich, Abbey C. Sidebottom, Anna K. Schulte, Jessica Taghon, Sheila Dollard, Nelmary Hernandez-Alvarado

    Published 2023-08-01
    “…International Journal of Neonatal Screening…”
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  10. 70
    Flow Cytometry Confirmation Post Newborn Screening for SCID in England

    Flow Cytometry Confirmation Post Newborn Screening for SCID in England by Kimberly C. Gilmour

    Published 2021-12-01
    “…International Journal of Neonatal Screening…”
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  11. 71
    Light and Shadows in Newborn Screening for Lysosomal Storage Disorders: Eight Years of Experience in Northeast Italy

    Light and Shadows in Newborn Screening for Lysosomal Storage Disorders: Eight Years of Experience in Northeast Italy by Vincenza Gragnaniello, Chiara Cazzorla, Daniela Gueraldi, Andrea Puma, Christian Loro, Elena Porcù, Maria Stornaiuolo, Paolo Miglioranza, Leonardo Salviati, Alessandro P. Burlina, Alberto B. Burlina

    Published 2023-12-01
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  12. 72
    Newborn Screening for Pompe Disease

    Newborn Screening for Pompe Disease by Takaaki Sawada, Jun Kido, Kimitoshi Nakamura

    Published 2020-04-01
    “…International Journal of Neonatal Screening…”
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  13. 73
    A Case of <i>DNAJC12</i>-Deficient Hyperphenylalaninemia Detected on Newborn Screening: Clinical Outcomes from Early Detection

    A Case of <i>DNAJC12</i>-Deficient Hyperphenylalaninemia Detected on Newborn Screening: Clinical Outcomes from Early Detection by Colleen Donnelly, Lissette Estrella, Ilona Ginevic, Jaya Ganesh

    Published 2024-01-01
    “…International Journal of Neonatal Screening…”
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  14. 74
    Performance of the Four-Plex Tandem Mass Spectrometry Lysosomal Storage Disease Newborn Screening Test: The Necessity of Adding a 2nd Tier Test for Pompe Disease

    Performance of the Four-Plex Tandem Mass Spectrometry Lysosomal Storage Disease Newborn Screening Test: The Necessity of Adding a 2nd Tier Test for Pompe Disease by Shu-Chuan Chiang, Pin-Wen Chen, Wuh-Liang Hwu, An-Ju Lee, Li-Chu Chen, Ni-Chung Lee, Li-Yan Chiou, Yin-Hsiu Chien

    Published 2018-12-01
    “…International Journal of Neonatal Screening…”
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  15. 75
    Suitable Specimen Types for Newborn Biochemical Screening-A Summary

    Suitable Specimen Types for Newborn Biochemical Screening-A Summary by Kate Hall

    Published 2017-07-01
    “…International Journal of Neonatal Screening…”
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  16. 76
    Landscape of Spinal Muscular Atrophy Newborn Screening in the United States: 2018–2021

    Landscape of Spinal Muscular Atrophy Newborn Screening in the United States: 2018–2021 by Kshea Hale, Jelili Ojodu, Sikha Singh

    Published 2021-06-01
    “…International Journal of Neonatal Screening…”
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  17. 77
    A Roadmap for Potential Improvement of Newborn Screening for Inherited Metabolic Diseases Following Recent Developments and Successful Applications of Bivariate Normal Limits for Pre-Symptomatic Detection of MPS I, Pompe Disease, and Krabbe Disease

    A Roadmap for Potential Improvement of Newborn Screening for Inherited Metabolic Diseases Following Recent Developments and Successful Applications of Bivariate Normal Limits for P... by Kabir Jalal, Randy L. Carter, Amy Barczykowski, Shunji Tomatsu, Thomas J. Langan

    Published 2022-11-01
    “…International Journal of Neonatal Screening…”
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  18. 78
    Development of Strategies to Decrease False Positive Results in Newborn Screening

    Development of Strategies to Decrease False Positive Results in Newborn Screening by Sabrina Malvagia, Giulia Forni, Daniela Ombrone, Giancarlo la Marca

    Published 2020-11-01
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  19. 79
    Early Detection and Diagnosis of Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency Missed by Newborn Screening Using Tandem Mass Spectrometry

    Early Detection and Diagnosis of Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency Missed by Newborn Screening Using Tandem Mass Spectrometry by Hiroko Shigetomi, Toju Tanaka, Masayoshi Nagao, Hiroyuki Tsutsumi

    Published 2018-01-01
    “…International Journal of Neonatal Screening…”
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  20. 80
    Missed Cystic Fibrosis Newborn Screening Cases due to Immunoreactive Trypsinogen Levels below Program Cutoffs: A National Survey of Risk Factors

    Missed Cystic Fibrosis Newborn Screening Cases due to Immunoreactive Trypsinogen Levels below Program Cutoffs: A National Survey of Risk Factors by Martin Kharrazi, Charlene Sacramento, Anne Marie Comeau, Jaime E. Hale, Michele Caggana, Denise M. Kay, Rachel Lee, Brendan Reilly, John D. Thompson, Samya Z. Nasr, Mary Kleyn, Gary Hoffman, Mei W. Baker, Colleen Clarke, Cheryl L. Harris, M. Christine Dorley, Hilary Fryman, Ankit Sutaria, Amy Hietala, Holly Winslow, Holly Richards, Bradford L. Therrell

    Published 2022-10-01
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