Showing 1 - 20 results of 434 for search '"International Journal of Neonatal Screening"', query time: 0.26s Refine Results
  1. 1
    Development of a Multiplex Real-Time PCR Assay for the Newborn Screening of SCID, SMA, and XLA

    Development of a Multiplex Real-Time PCR Assay for the Newborn Screening of SCID, SMA, and XLA by Cristina Gutierrez-Mateo, Anne Timonen, Katja Vaahtera, Markku Jaakkola, David M Hougaard, Jonas Bybjerg-Grauholm, Marie Baekvad-Hansen, Dea Adamsen, Galina Filippov, Stephanie Dallaire, David Goldfarb, Daniel Schoener, Rongcong Wu

    Published 2019-11-01
    “…International Journal of Neonatal Screening…”
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  2. 2
    Glutaric Aciduria Type I Missed by Newborn Screening: Report of Four Cases from Three Families

    Glutaric Aciduria Type I Missed by Newborn Screening: Report of Four Cases from Three Families by Johannes Spenger, Esther M. Maier, Katharina Wechselberger, Florian Bauder, Melanie Kocher, Wolfgang Sperl, Martin Preisel, Katharina A. Schiergens, Vassiliki Konstantopoulou, Wulf Röschinger, Johannes Häberle, Thomas Schmitt-Mechelke, Saskia B. Wortmann, Ralph Fingerhut

    Published 2021-06-01
    “…International Journal of Neonatal Screening…”
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  3. 3
    Newborn Screening for Lysosomal Disease: Mission Creep and a Taste of Things to Come?

    Newborn Screening for Lysosomal Disease: Mission Creep and a Taste of Things to Come? by Bridget Wilcken

    Published 2018-06-01
    “…International Journal of Neonatal Screening…”
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  4. 4
    Newborn Screening for X-Linked Adrenoleukodystrophy: Review of Data and Outcomes in Pennsylvania

    Newborn Screening for X-Linked Adrenoleukodystrophy: Review of Data and Outcomes in Pennsylvania by Jessica R. C. Priestley, Laura A. Adang, Sarah Drewes Williams, Uta Lichter-Konecki, Caitlin Menello, Nicole M. Engelhardt, James C. DiPerna, Brenda DiBoscio, Rebecca C. Ahrens-Nicklas, Andrew C. Edmondson, Francis Jeshira Reynoso Santos, Can Ficicioglu

    Published 2022-03-01
    “…International Journal of Neonatal Screening…”
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  5. 5
    The Cost-Effectiveness of Expanding the UK Newborn Bloodspot Screening Programme to Include Five Additional Inborn Errors of Metabolism

    The Cost-Effectiveness of Expanding the UK Newborn Bloodspot Screening Programme to Include Five Additional Inborn Errors of Metabolism by Alice Bessey, James Chilcott, Abdullah Pandor, Suzy Paisley

    Published 2020-11-01
    “…International Journal of Neonatal Screening…”
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  6. 6
    Neonatal Screening for MPS Disorders in Latin America: A Survey of Pilot Initiatives

    Neonatal Screening for MPS Disorders in Latin America: A Survey of Pilot Initiatives by Francyne Kubaski, Inês Sousa, Tatiana Amorim, Danilo Pereira, Joe Trometer, Alexandre Souza, Enzo Ranieri, Giulia Polo, Alberto Burlina, Ana Carolina Brusius-Facchin, Alice Brinckmann Oliveira Netto, Shunji Tomatsu, Roberto Giugliani

    Published 2020-11-01
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  7. 7
    Improving Recruitment for a Newborn Screening Pilot Study with Adaptations in Response to the COVID-19 Pandemic

    Improving Recruitment for a Newborn Screening Pilot Study with Adaptations in Response to the COVID-19 Pandemic by Julia Wynn, Norma P. Tavakoli, Niki Armstrong, Jacqueline Gomez, Carrie Koval, Christina Lai, Stephanie Tang, Andrea Quevedo Prince, Yeyson Quevedo, Katrina Rufino, Laura Palacio Morales, Angela Pena, Sharon Grossman, Mary Monfiletto, Erika Ruda, Vania Jimenez, Lorraine Verdade, Ashley Jones, Michelle G. Barriga, Nandanee Karan, Alexandria Puma, Safa Sarker, Sarah Chin, Kelly Duarte, David H. Tegay, Irzaud Bacchus, Rajani Julooru, Breanne Maloney, Sunju Park, Akilan M. Saami, Lilian Cohen, Natasha Shapiro, Michele Caggana, Wendy K. Chung, Dorota Gruber

    Published 2022-03-01
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  8. 8
    Pancreatitis-Associated Protein in Neonatal Screening for Cystic Fibrosis: Strengths and Weaknesses

    Pancreatitis-Associated Protein in Neonatal Screening for Cystic Fibrosis: Strengths and Weaknesses by Olaf Sommerburg, Jutta Hammermann

    Published 2020-03-01
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  9. 9
    Newborn Screening by Genomic Sequencing: Opportunities and Challenges

    Newborn Screening by Genomic Sequencing: Opportunities and Challenges by David Bick, Arzoo Ahmed, Dasha Deen, Alessandra Ferlini, Nicolas Garnier, Dalia Kasperaviciute, Mathilde Leblond, Amanda Pichini, Augusto Rendon, Aditi Satija, Alice Tuff-Lacey, Richard H. Scott

    Published 2022-07-01
    “…International Journal of Neonatal Screening…”
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  10. 10
    Cost and Cost-Effectiveness Assessments of Newborn Screening for Critical Congenital Heart Disease Using Pulse Oximetry: A Review

    Cost and Cost-Effectiveness Assessments of Newborn Screening for Critical Congenital Heart Disease Using Pulse Oximetry: A Review by Scott D. Grosse, Cora Peterson, Rahi Abouk, Jill Glidewell, Matthew E. Oster

    Published 2017-12-01
    “…International Journal of Neonatal Screening…”
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  11. 11
    Knowledge about Neonatal Screening among Postpartum Women and Complexity Level of Birthing Facilities

    Knowledge about Neonatal Screening among Postpartum Women and Complexity Level of Birthing Facilities by Mariana F. Guimarães, Fernanda A. Rabelo, Israel Figueiredo Jr.

    Published 2019-01-01
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  12. 12
    Cystic Fibrosis Newborn Screening in Portugal: PAP Value in Populations with Stringent Rules for Genetic Studies

    Cystic Fibrosis Newborn Screening in Portugal: PAP Value in Populations with Stringent Rules for Genetic Studies by Ana Marcão, Celeste Barreto, Luísa Pereira, Luísa Guedes Vaz, José Cavaco, Ana Casimiro, Miguel Félix, Teresa Reis Silva, Telma Barbosa, Cristina Freitas, Sidónia Nunes, Verónica Felício, Lurdes Lopes, Margarida Amaral, Laura Vilarinho

    Published 2018-06-01
    “…International Journal of Neonatal Screening…”
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  13. 13
    A Novel Approach to Improve Newborn Screening for Congenital Hypothyroidism by Integrating Covariate-Adjusted Results of Different Tests into CLIR Customized Interpretive Tools

    A Novel Approach to Improve Newborn Screening for Congenital Hypothyroidism by Integrating Covariate-Adjusted Results of Different Tests into CLIR Customized Interpretive Tools by Alexander D. Rowe, Stephanie D. Stoway, Henrik Åhlman, Vaneet Arora, Michele Caggana, Anna Fornari, Arthur Hagar, Patricia L. Hall, Gregg C. Marquardt, Bobby J. Miller, Christopher Nixon, Andrew P. Norgan, Joseph J. Orsini, Rolf D. Pettersen, Amy L. Piazza, Neil R. Schubauer, Amy C. Smith, Hao Tang, Norma P. Tavakoli, Sainan Wei, Rolf H. Zetterström, Robert J. Currier, Lars Mørkrid, Piero Rinaldo

    Published 2021-04-01
    “…International Journal of Neonatal Screening…”
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  14. 14
    Scalable Newborn Screening Solutions: Bioinformatics and Next-Generation Sequencing

    Scalable Newborn Screening Solutions: Bioinformatics and Next-Generation Sequencing by Nicole Ruiz-Schultz, Bryce Asay, Andreas Rohrwasser

    Published 2021-09-01
    “…International Journal of Neonatal Screening…”
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  15. 15
    Neonatal Screening for Congenital Adrenal Hyperplasia in Indian Newborns with Reflex Genetic Analysis of 21-Hydroxylase Deficiency

    Neonatal Screening for Congenital Adrenal Hyperplasia in Indian Newborns with Reflex Genetic Analysis of 21-Hydroxylase Deficiency by Jayakrishna Tippabathani, Venu Seenappa, Alagupandian Murugan, Nagaraja Mahishi Phani, Mahesh H. Hampe, Giridharan Appaswamy, Prakash Sadashiv Gambhir

    Published 2023-02-01
    “…International Journal of Neonatal Screening…”
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  16. 16
    Study Design for an Evaluation of Newborn Screening for SCID in the UK

    Study Design for an Evaluation of Newborn Screening for SCID in the UK by David Elliman

    Published 2022-01-01
    “…International Journal of Neonatal Screening…”
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  17. 17
    A Qualitative Assessment of Clinical Practice Guidelines and Patterns for Congenital Cytomegalovirus in the United States

    A Qualitative Assessment of Clinical Practice Guidelines and Patterns for Congenital Cytomegalovirus in the United States by Stephanie Kalb, John Diaz-Decaro, Harout Tossonian, Andrew Natenshon, Lori Panther, James Mansi, Laura Gibson

    Published 2023-06-01
    “…International Journal of Neonatal Screening…”
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  18. 18
    The Importance of Succinylacetone: Tyrosinemia Type I Presenting with Hyperinsulinism and Multiorgan Failure Following Normal Newborn Screening

    The Importance of Succinylacetone: Tyrosinemia Type I Presenting with Hyperinsulinism and Multiorgan Failure Following Normal Newborn Screening by Jessica R. C. Priestley, Hana Alharbi, Katharine Press Callahan, Herodes Guzman, Irma Payan-Walters, Ligia Smith, Can Ficicioglu, Rebecca D. Ganetzky, Rebecca C. Ahrens-Nicklas

    Published 2020-05-01
    “…International Journal of Neonatal Screening…”
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  19. 19
    Comparison of Overall Sensitivity and Specificity across Different Newborn Screening Algorithms for Congenital Cytomegalovirus

    Comparison of Overall Sensitivity and Specificity across Different Newborn Screening Algorithms for Congenital Cytomegalovirus by Mark R. Schleiss, Lori Panther, Sandeep Basnet, Meklit Workneh, John Diaz-Decaro

    Published 2023-06-01
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  20. 20
    Newborn Screening for Severe Combined Immunodeficiency-A History of the TREC Assay

    Newborn Screening for Severe Combined Immunodeficiency-A History of the TREC Assay by Mary T. Bausch-Jurken, James W. Verbsky, John M. Routes

    Published 2017-06-01
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