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Universal Screening for CCHD in Saudi Arabia: The Road to a ‘State of the Art’ Program

JOURNAL ARTICLE published 24 February 2020 in International Journal of Neonatal Screening

Authors: Fahad AlAql | Huda Khaleel | Vetha Peter

https://doi.org/10.3390/ijns6010013 Actions

The Editor’s Choice for Issue 3, Volume 7

JOURNAL ARTICLE published 20 December 2021 in International Journal of Neonatal Screening

Authors: Ralph Fingerhut

https://doi.org/10.3390/ijns7040084 Actions

Current Methods of Newborn Screening Follow-Up for Sickle Cell Disease Are Highly Variable and without Quality Assurance: Results from the ENHANCE Study

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

Research funded by ADVANCING ALSTATE (1NU58DD000018-01-00 (CDC)) | Health Resources and Services Administration (HRSA) of the U.S. Department of Health and Human Services (#UG8MC31893)

Authors: Najibah Galadanci | Shannon Phillips | Alyssa Schlenz | Nataliya Ivankova | Julie Kanter

https://doi.org/10.3390/ijns10010022 Actions

Retrospective Review of Positive Newborn Screening Results for Isovaleric Acidemia and Development of a Strategy to Improve the Efficacy of Newborn Screening in the UK

JOURNAL ARTICLE published 13 March 2024 in International Journal of Neonatal Screening

Authors: Rachel S. Carling | Katy Hedgethorne | Anupam Chakrapani | Patricia L. Hall | Nick Flynn | Toby Greenfield | Stuart J. Moat | Joshua Ssali | Lynette Shakespeare | Nazia Taj | Teresa H. Y. Wu | Mark Anderson | Arunabha Ghosh | Hugh Lemonde | Germaine Pierre | Mark Sharrard | Sreevidya Sreekantam | James R. Bonham

https://doi.org/10.3390/ijns10010024 Actions

Newborn Hearing Screening in Bavaria—Is It Possible to Reach the Quality Parameters?

JOURNAL ARTICLE published 24 July 2018 in International Journal of Neonatal Screening

Authors: Inken Brockow | Kristina Söhl | Uta Nennstiel

https://doi.org/10.3390/ijns4030026 Actions

Select Ethical Aspects of Next-Generation Sequencing Tests for Newborn Screening and Diagnostic Evaluation of Critically Ill Newborns

JOURNAL ARTICLE published 8 November 2021 in International Journal of Neonatal Screening

Authors: Kuntal Sen | Jennifer Harmon | Andrea L. Gropman

https://doi.org/10.3390/ijns7040076 Actions

A Biochemical Platform to Define the Relative Specific Activity of IDUA Variants Identified by Newborn Screening

JOURNAL ARTICLE published 12 November 2020 in International Journal of Neonatal Screening

Authors: Seok-Ho Yu | Laura Pollard | Tim Wood | Heather Flanagan-Steet | Richard Steet

https://doi.org/10.3390/ijns6040088 Actions

Family Attitudes regarding Newborn Screening for Krabbe Disease: Results from a Survey of Leukodystrophy Registries

JOURNAL ARTICLE published 20 August 2020 in International Journal of Neonatal Screening

Authors: Karlita Blackwell | Michael H. Gelb | Anna Grantham | Natasha Spencer | Christin Webb | Tara West

https://doi.org/10.3390/ijns6030066 Actions

12th ISNS European Regional Meeting Oral and Poster Abstracts

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

Authors: Kate Hall

https://doi.org/10.3390/ijns7040071 Actions

Attitudes of Patients with Adrenoleukodystrophy towards Sex-Specific Newborn Screening

JOURNAL ARTICLE published 2 September 2023 in International Journal of Neonatal Screening

Research funded by The Netherlands Organization for Scientific Research (016.196.310) | The Netherlands Organization for Health Research and Development (543002004)

Authors: Hemmo A. F. Yska | Lidewij Henneman | Rinse W. Barendsen | Marc Engelen | Stephan Kemp

https://doi.org/10.3390/ijns9030051 Actions

Assessing the Benefits and Harms Associated with Early Diagnosis from the Perspective of Parents with Multiple Children Diagnosed with Duchenne Muscular Dystrophy

JOURNAL ARTICLE published 15 April 2024 in International Journal of Neonatal Screening

Research funded by Parent Project Muscular Dystrophy (No grant number available) | Burroughs Wellcome Fund (No grant number available)

Authors: Oindrila Bhattacharyya | Nicola B. Campoamor | Niki Armstrong | Megan Freed | Rachel Schrader | Norah L. Crossnohere | John F. P. Bridges

https://doi.org/10.3390/ijns10020032 Actions

Comment on Kluckow M. Barriers to the Implementation of Newborn Pulse Oximetry Screening: A Different Perspective. Int. J. Neonatal Screen. 2018, 4(1), 4

JOURNAL ARTICLE published 14 April 2018 in International Journal of Neonatal Screening

Authors: Thomas Gentles | Elza Cloete | Mats Mellander

https://doi.org/10.3390/ijns4020013 Actions

Inconclusive Diagnosis after Newborn Screening for Cystic Fibrosis

JOURNAL ARTICLE published 12 March 2020 in International Journal of Neonatal Screening

Authors: Anne Munck

https://doi.org/10.3390/ijns6010019 Actions

Parental Depression and Anxiety Associated with Newborn Bloodspot Screening for Rare and Variable-Onset Disorders

JOURNAL ARTICLE published 10 November 2022 in International Journal of Neonatal Screening

Research funded by Eunice Kennedy Shriver National Institute of Child Health and Human Development (R01HD073292)

Authors: Natalie A. Boychuk | Niamh S. Mulrooney | Nicole R. Kelly | Aaron J. Goldenberg | Ellen J. Silver | Melissa P. Wasserstein

https://doi.org/10.3390/ijns8040059 Actions

Whole-Genome Sequencing Can Identify Clinically Relevant Variants from a Single Sub-Punch of a Dried Blood Spot Specimen

JOURNAL ARTICLE published 21 September 2023 in International Journal of Neonatal Screening

Authors: David J. McBride | Claire Fielding | Taksina Newington | Alexandra Vatsiou | Harry Fischl | Maya Bajracharya | Vicki S. Thomson | Louise J. Fraser | Pauline A. Fujita | Jennifer Becq | Zoya Kingsbury | Mark T. Ross | Stuart J. Moat | Sian Morgan

https://doi.org/10.3390/ijns9030052 Actions

Light and Shadows in Newborn Screening for Lysosomal Storage Disorders: Eight Years of Experience in Northeast Italy

JOURNAL ARTICLE published 25 December 2023 in International Journal of Neonatal Screening

Authors: Vincenza Gragnaniello | Chiara Cazzorla | Daniela Gueraldi | Andrea Puma | Christian Loro | Elena Porcù | Maria Stornaiuolo | Paolo Miglioranza | Leonardo Salviati | Alessandro P. Burlina | Alberto B. Burlina

https://doi.org/10.3390/ijns10010003 Actions

Pulse Oximetry Screening for Critical Congenital Heart Defects: A Life-Saving Test for All Newborn Babies

JOURNAL ARTICLE published 12 February 2019 in International Journal of Neonatal Screening

Authors: Andrew K. Ewer

https://doi.org/10.3390/ijns5010014 Actions

The Longitudinal Pediatric Data Resource: Facilitating Longitudinal Collection of Health Information to Inform Clinical Care and Guide Newborn Screening Efforts

JOURNAL ARTICLE published 30 June 2021 in International Journal of Neonatal Screening

Research funded by Eunice Kennedy Shriver National Institute of Child Health and Human Development (HHSN275201800005C)

Authors: Amy Brower | Kee Chan | Michael Hartnett | Jennifer Taylor

https://doi.org/10.3390/ijns7030037 Actions

Utility of Genetic Testing for Confirmation of Abnormal Newborn Screening in Disorders of Long-Chain Fatty Acids: A Missed Case of Carnitine Palmitoyltransferase 1A (CPT1A) Deficiency

JOURNAL ARTICLE published 28 April 2017 in International Journal of Neonatal Screening

Authors: Leah Dowsett | Lauren Lulis | Can Ficicioglu | Sanmati Cuddapah

https://doi.org/10.3390/ijns3020010 Actions

Development of a Population-Based Newborn Screening Method for Severe Combined Immunodeficiency in Manitoba, Canada

JOURNAL ARTICLE published 19 June 2018 in International Journal of Neonatal Screening

Authors: J. Thompson | Cheryl Greenberg | Andrew Dick | Olga Jilkina | Luvinia Kwan | Tamar Rubin | Teresa Zelinski | Marlis Schroeder | Paul Van Caeseele

https://doi.org/10.3390/ijns4020019 Actions
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