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International Journal of Neonatal Screening|June 26, 2024
Age-Related Blood Levels of Creatine Kinase-MM in Newborns and Patients with Duchenne Muscular Dystrophy: Considerations for the Development of Newborn Screening AlgorithmsSarah Nelson Potter, Brooke Migliore, Javan Carter, et al.
International Journal of Neonatal Screening|November 24, 2025
Reclassifying IDUA c.250G>A (p.Gly84Ser): Evidence for a Possible Pseudodeficiency AlleleChristopher Connolly, Rachel Fisher, Chen Yang, et al.
International Journal of Neonatal Screening|November 24, 2025
Cord Blood-Based Neonatal Screening for Hemoglobinopathies in Northern TunisiaHouyem Ouragini, Nizar Ben Halim, Sana Zitouni, et al.
International Journal of Neonatal Screening|December 24, 2025
Incidence of Organic Acid Disorders in 13 Million Chinese Newborns: A Systematic Review and Meta-AnalysisShuting Huang, Qiongfang Yao, Fei Kong, et al.
International Journal of Neonatal Screening|April 23, 2024
Advancing Newborn Screening Long-Term Follow-Up: Integration of Epic-Based Registries, Dashboards, and Efficient WorkflowsKatherine Raboin, Debra Ellis, Ginger Nichols, et al.
International Journal of Neonatal Screening|April 23, 2024
Management and Outcomes of Very Long-Chain Acyl-CoA Dehydrogenase Deficiency (VLCAD Deficiency): A Retrospective Chart ReviewMaria Al Bandari, Laura Nagy, Vivian Cruz, et al.
International Journal of Neonatal Screening|April 23, 2024
Assessing the Benefits and Harms Associated with Early Diagnosis from the Perspective of Parents with Multiple Children Diagnosed with Duchenne Muscular DystrophyOindrila Bhattacharyya, Nicola B Campoamor, Niki Armstrong, et al.
International Journal of Neonatal Screening|April 23, 2024
Newborn Screening for Inborn Errors of Metabolism by Next-Generation Sequencing Combined with Tandem Mass SpectrometryChengfang Tang, Lixin Li, Ting Chen, et al.
International Journal of Neonatal Screening|December 22, 2023
Newborn Genetic Screening-Still a Role for Sanger Sequencing in the Era of NGSSilje Hogner, Emma Lundman, Janne Strand, et al.
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