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Newborn Screening for Lysosomal Storage Diseases: Methodologies, Screen Positive Rates, Normalization of Datasets, Second-Tier Tests, and Post-Analysis Tools

JOURNAL ARTICLE published 9 July 2018 in International Journal of Neonatal Screening

Authors: Michael Gelb

https://doi.org/10.3390/ijns4030023 Actions

Glutaric Aciduria Type I Missed by Newborn Screening: Report of Four Cases from Three Families

JOURNAL ARTICLE published 18 June 2021 in International Journal of Neonatal Screening

Authors: Johannes Spenger | Esther Maier | Katharina Wechselberger | Florian Bauder | Melanie Kocher | Wolfgang Sperl | Martin Preisel | Katharina Schiergens | Vassiliki Konstantopoulou | Wulf Röschinger | Johannes Häberle | Thomas Schmitt-Mechelke | Saskia Wortmann | Ralph Fingerhut

https://doi.org/10.3390/ijns7020032 Actions

Are We Ready for Fragile X Newborn Screening Testing?—Lessons Learnt from a Feasibility Study

JOURNAL ARTICLE published 13 February 2018 in International Journal of Neonatal Screening

Authors: Tiffany Wotton | Veronica Wiley | Bruce Bennetts | Louise Christie | Bridget Wilcken | Gemma Jenkins | Carolyn Rogers | Jackie Boyle | Michael Field

https://doi.org/10.3390/ijns4010009 Actions

Fred Lorey Passed Away

JOURNAL ARTICLE published 4 November 2020 in International Journal of Neonatal Screening

Authors: Lisa Feuchtbaum | Michele A. Lloyd-Puryear

https://doi.org/10.3390/ijns6040087 Actions

Newborn Screening for Cystic Fibrosis: A Qualitative Study of Successes and Challenges from Universal Screening in the United States

JOURNAL ARTICLE published 23 June 2022 in International Journal of Neonatal Screening

Research funded by Cystic Fibrosis Foundation (MCCOLL19QI0)

Authors: Marci K. Sontag | Joshua I. Miller | Sarah McKasson | Amy Gaviglio | Stacey L. Martiniano | Rhonda West | Marisol Vazquez | Clement L. Ren | Philip M. Farrell | Susanna A. McColley | Yvonne Kellar-Guenther

https://doi.org/10.3390/ijns8030038 Actions

Evaluation of a Common Internal Standard Material to Reduce Inter-Laboratory Variation and Ensure the Quality, Safety and Efficacy of Expanded Newborn Screening Results When Using Flow Injection Analysis Tandem Mass Spectrometry with Internal Calibration

JOURNAL ARTICLE published 19 November 2020 in International Journal of Neonatal Screening

Authors: Rachel S. Carling | Catharine John | Philippa Goddard | Caroline Griffith | Simon Cowen | Christopher Hopley | Stuart J. Moat

https://doi.org/10.3390/ijns6040092 Actions

A Positive Newborn Screen for Congenital Hypothyroidism in a Clinically Euthyroid Neonate—Avoiding Unnecessary Treatment

JOURNAL ARTICLE published 23 March 2023 in International Journal of Neonatal Screening

Authors: Ashleigh Brown | Paul Hofman | Bobby Li | Campbell Heron | Natasha Heather

https://doi.org/10.3390/ijns9020016 Actions

dbRUSP: An Interactive Database to Investigate Inborn Metabolic Differences for Improved Genetic Disease Screening

JOURNAL ARTICLE published 29 August 2022 in International Journal of Neonatal Screening

Research funded by Eunice Kennedy Shriver National Institute of Child Health and Human Development (R01HD102537)

Authors: Gang Peng | Yunxuan Zhang | Hongyu Zhao | Curt Scharfe

https://doi.org/10.3390/ijns8030048 Actions

Newborn Screening for Primary Immune Deficiencies with a TREC/KREC/ACTB Triplex Assay—A Three-Year Pilot Study in Sweden

JOURNAL ARTICLE published 19 May 2017 in International Journal of Neonatal Screening

Authors: Rolf Zetterström | Michela Barbaro | Annika Ohlsson | Stephan Borte | Susanne Jonsson | Jacek Winiarski | Ulrika von Döbeln | Lennart Hammarström

https://doi.org/10.3390/ijns3020011 Actions

Neonatal Screening for Cystic Fibrosis in Hungary—First-Year Experiences

JOURNAL ARTICLE published 23 August 2023 in International Journal of Neonatal Screening

Research funded by Ministry of Human Capacities (10541-4/2019/EGST)

Authors: Andrea Xue | István Lénárt | Judit Kincs | Hajnalka Szabó | Andrea Párniczky | István Balogh | Anna Deák | Péter Béla Monostori | Krisztina Hegedűs | Attila J. Szabó | Ildikó Szatmári

https://doi.org/10.3390/ijns9030047 Actions

Validation of a Fast, Robust, Inexpensive, Two-Tiered Neonatal Screening Test algorithm on Dried Blood Spots for Spinal Muscular Atrophy

JOURNAL ARTICLE published 15 May 2019 in International Journal of Neonatal Screening

Authors: Annuska Strunk | Andre Abbes | Antoine Stuitje | Chris Hettinga | Eline Sepers | Reinier Snetselaar | Jan Schouten | Fay-Lynn Asselman | Inge Cuppen | Henny Lemmink | W. van der Pol | Henk Engel

https://doi.org/10.3390/ijns5020021 Actions

The Editor’s Choice for Issue 2, Volume 8

JOURNAL ARTICLE published 5 May 2023 in International Journal of Neonatal Screening

Authors: Peter C. J. I. Schielen

https://doi.org/10.3390/ijns9020027 Actions

Building a Newborn Screening Information Management System from Theory to Practice

JOURNAL ARTICLE published 23 January 2019 in International Journal of Neonatal Screening

Authors: Michael Pluscauskas | Matthew Henderson | Jennifer Milburn | Pranesh Chakraborty

https://doi.org/10.3390/ijns5010009 Actions

Validation and Implementation of a Highly Sensitive and Efficient Newborn Screening Assay for Mucopolysaccharidosis Type II

JOURNAL ARTICLE published 14 October 2020 in International Journal of Neonatal Screening

Authors: Heather Bilyeu | Jon Washburn | Lacey Vermette | Tracy Klug

https://doi.org/10.3390/ijns6040079 Actions

A Comparative Effectiveness Study of Newborn Screening Methods for Four Lysosomal Storage Disorders

JOURNAL ARTICLE published 30 May 2020 in International Journal of Neonatal Screening

Research funded by Eunice Kennedy Shriver National Institute of Child Health and Human Development (HHSN275201000017C) | The Legacy of Angels Foundation (n/a) | Friedreich's Ataxia Research Alliance (n/a)

Authors: Karen A. Sanders | Dimitar K. Gavrilov | Devin Oglesbee | Kimiyo M. Raymond | Silvia Tortorelli | John J. Hopwood | Fred Lorey | Ramanath Majumdar | Charles A. Kroll | Amber M. McDonald | Jean M. Lacey | Coleman T. Turgeon | Justin N. Tucker | Hao Tang | Robert Currier | Grazia Isaya | Piero Rinaldo | Dietrich Matern

https://doi.org/10.3390/ijns6020044 Actions

Iowa Newborn Screening Program Experience with Hemoglobinopathy Screening over the Last Two Decades and Its Increasing Global Relevance

JOURNAL ARTICLE published 8 March 2024 in International Journal of Neonatal Screening

Authors: Ryan Jilek | Jennifer Marcy | Carol Johnson | Georgianne Younger | Amy Calhoun | Moon Ley Tung

https://doi.org/10.3390/ijns10010021 Actions

Newborn Critical Congenital Heart Disease Screening Using Pulse Oximetry: Value and Unique Challenges in Developing Regions

JOURNAL ARTICLE published 15 September 2020 in International Journal of Neonatal Screening

Authors: Lisa A. Hom | Gerard R. Martin

https://doi.org/10.3390/ijns6030074 Actions

Informing Parents about Newborn Screening: A European Comparison Study

JOURNAL ARTICLE published 26 February 2021 in International Journal of Neonatal Screening

Research funded by International Society of Neonatal Screening (Project Patient information internationally.)

Authors: Amber IJzebrink | Tessa van Dijk | Věra Franková | Gerard Loeber | Viktor Kožich | Lidewij Henneman | Marleen Jansen

https://doi.org/10.3390/ijns7010013 Actions

Ethical and Psychosocial Implications of Genomic Newborn Screening

JOURNAL ARTICLE published 9 January 2021 in International Journal of Neonatal Screening

Authors: Harvey L. Levy

https://doi.org/10.3390/ijns7010002 Actions

Thirty-Year Lessons from the Newborn Screening for Congenital Adrenal Hyperplasia (CAH) in Japan

JOURNAL ARTICLE published 29 June 2021 in International Journal of Neonatal Screening

Research funded by Japan Society for the Promotion of Science (201811056A)

Authors: Atsumi Tsuji-Hosokawa | Kenichi Kashimada

https://doi.org/10.3390/ijns7030036 Actions
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