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Experiences and Challenges with Congenital Hypothyroidism Newborn Screening in Indonesia: A National Cross-Sectional Survey.
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- International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 1, p. 8, doi. 10.3390/ijns10010008
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- Article
Postponement of the Newborn Hearing Screening during the COVID-19 Pandemic; Parental Experiences and Worries.
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- International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 1, p. 26, doi. 10.3390/ijns10010026
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- Article
Portuguese Neonatal Screening Program: A Cohort Study of 18 Years Using MS/MS.
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- International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 1, p. 25, doi. 10.3390/ijns10010025
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- Article
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.
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- International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 1, p. 24, doi. 10.3390/ijns10010024
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- Article
Expanded Newborn Screening for Inborn Errors of Metabolism in Hong Kong: Results and Outcome of a 7 Year Journey.
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- International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 1, p. 23, doi. 10.3390/ijns10010023
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- Article
Current Methods of Newborn Screening Follow-Up for Sickle Cell Disease Are Highly Variable and without Quality Assurance: Results from the ENHANCE Study.
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- International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 1, p. 22, doi. 10.3390/ijns10010022
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- Article
Iowa Newborn Screening Program Experience with Hemoglobinopathy Screening over the Last Two Decades and Its Increasing Global Relevance.
- Published in:
- International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 1, p. 21, doi. 10.3390/ijns10010021
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- Article
Future of Dutch NGS-Based Newborn Screening: Exploring the Technical Possibilities and Assessment of a Variant Classification Strategy.
- Published in:
- International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 1, p. 20, doi. 10.3390/ijns10010020
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- Article
Psychosocial Impact of a True-Positive, False-Positive, or Inconclusive Newborn Bloodspot Screening Result: A Questionnaire Study among Parents.
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- International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 1, p. 18, doi. 10.3390/ijns10010018
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- Article
Harnessing Next-Generation Sequencing as a Timely and Accurate Second-Tier Screening Test for Newborn Screening of Inborn Errors of Metabolism.
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- International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 1, p. 19, doi. 10.3390/ijns10010019
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- Article
New Cases of Maleylacetoacetate Isomerase Deficiency with Detection by Newborn Screening and Natural History over 32 Years: Experience from a German Newborn Screening Center.
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- International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 1, p. 17, doi. 10.3390/ijns10010017
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- Article
Using the C14:1/Medium-Chain Acylcarnitine Ratio Instead of C14:1 to Reduce False-Positive Results for Very-Long-Chain Acyl-CoA Dehydrogenase Deficiency in Newborn Screening in Japan.
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- International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 1, p. 15, doi. 10.3390/ijns10010015
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- Article
History of Neonatal Screening of Congenital Hypothyroidism in Portugal.
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- International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 1, p. 16, doi. 10.3390/ijns10010016
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- Article
Impact of Cytomegalovirus (CMV) on an Academic Pediatric Infectious Diseases Outpatient Clinic Referral Population, 2005–2020: Will the Advent of Universal Congenital CMV (cCMV) Screening Change Clinical Practice Referral Patterns?
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- International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 1, p. 14, doi. 10.3390/ijns10010014
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- Article
Past as Prologue: Predicting Potential Psychosocial–Ethical Burdens of Positive Newborn Screens as Conditions Propagate.
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- International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 1, p. 12, doi. 10.3390/ijns10010012
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- Article
Stakeholder Views of the Proposed Introduction of Next Generation Sequencing into the Cystic Fibrosis Screening Protocol in England.
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- International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 1, p. 13, doi. 10.3390/ijns10010013
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- Article
Leading Risk Factors for Congenital Deafness in the Context of Universal Neonatal Screening: Our Observations in a Four-Year Retrospective Study.
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- International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 1, p. 11, doi. 10.3390/ijns10010011
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- Article
Newborn Screening for Krabbe Disease: Status Quo and Recommendations for Improvements.
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- International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 1, p. 10, doi. 10.3390/ijns10010010
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- Article
Establishment of a Pilot Newborn Screening Program for Spinal Muscular Atrophy in Saint Petersburg †.
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- International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 1, p. 9, doi. 10.3390/ijns10010009
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- Article
A Case of DNAJC12 -Deficient Hyperphenylalaninemia Detected on Newborn Screening: Clinical Outcomes from Early Detection.
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- International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 1, p. 7, doi. 10.3390/ijns10010007
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- Article
Australian Public Perspectives on Genomic Newborn Screening: Risks, Benefits, and Preferences for Implementation.
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- International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 1, p. 6, doi. 10.3390/ijns10010006
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- Article
Influence of Season, Storage Temperature and Time of Sample Collection in Pancreatitis-Associated Protein-Based Algorithms for Newborn Screening for Cystic Fibrosis.
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- International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 1, p. 5, doi. 10.3390/ijns10010005
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- Article
Landscape Analysis of Neurodevelopmental Comorbidities in Newborn Screening Conditions: Challenges and Opportunities.
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- International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 1, p. 4, doi. 10.3390/ijns10010004
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- Article
Light and Shadows in Newborn Screening for Lysosomal Storage Disorders: Eight Years of Experience in Northeast Italy.
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- International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 1, p. 3, doi. 10.3390/ijns10010003
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- Article
Incidental Detection of Classical Galactosemia through Newborn Screening for Phenylketonuria: A 10-Year Retrospective Audit to Determine the Efficacy of This Approach.
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- International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 1, p. 2, doi. 10.3390/ijns10010002
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- Article
Droplet Digital PCR (ddPCR) Does Not Enhance the Sensitivity of Detection of Cytomegalovirus (CMV) DNA in Newborn Dried Blood Spots Evaluated in the Context of Newborn Congenital CMV (cCMV) Screening.
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- International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 1, p. 1, doi. 10.3390/ijns10010001
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- Article