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International Journal of Neonatal Screening|December 22, 2023
A False-Negative Newborn Screen for Tyrosinemia Type 1-Need for Re-Evaluation of Newborn Screening with SuccinylacetoneAllysa M Dijkstra, Kimber Evers-van Vliet, M Rebecca Heiner-Fokkema, et al.International Journal of Neonatal Screening|December 22, 2023
Cystic Fibrosis Cases Missed by Newborn Bloodspot Screening-Towards a Consistent Definition and Data AcquisitionAnne Munck, Kevin W Southern, Jared Murphy, et al.International Journal of Neonatal Screening|November 26, 2020
The Methodological Quality and Challenges in Conducting Economic Evaluations of Newborn Screening: A Scoping ReviewPasquale Cacciatore, Laurenske A Visser, Nasuh Buyukkaramikli, et al.International Journal of Neonatal Screening|June 25, 2026
Implementation of a Prospective Birth Cohort for Newborn Screening and Early Linkage to Comprehensive Sickle Cell Disease Care in a Low-Resource SettingUmma A Ibrahim, Aisha B Musa, Oiza O Aliu-Isah, et al.International Journal of Neonatal Screening|June 25, 2026
Health Outcomes of Patients with Distal Urea Cycle Disorders Detected by Newborn Screening: Data from the Spanish National RegistryRaquel Yahyaoui, Pilar Quijada-Fraile, Javier Blasco-Alonso, et al.International Journal of Neonatal Screening|June 25, 2026
A Four-Year Prospective Pilot Study of Newborn Screening for Late-Onset Proximal Urea-Cycle Disorders in Hyogo Prefecture in JapanTomoko Lee, Miki Matsui, Yoko Yokoyama, et al.International Journal of Neonatal Screening|June 25, 2026
Development of Dried Blood Spot Proficiency Testing Materials for Newborn Screening of Lysosomal Diseases Using Recombinant EnzymesElya Courtney, Samantha L Isenberg, Timothy Lim, et al.International Journal of Neonatal Screening|July 24, 2026
Implementation of TREC/KREC Newborn Screening in a High-Birth-Rate Population: A Pilot Study of 5000 Neonates in South KazakhstanGulzada Abdushukurova, Alken Auyelova, Banu Kadyrbayeva, et al.International Journal of Neonatal Screening|July 24, 2026
Combined Intracerebroventricular Enzyme Replacement and Cord Blood Transplantation in Patients with Mucopolysaccharidosis Type II Diagnosed Through Newborn ScreeningYuki Ueda, Shinsuke Hirabayashi, Masayuki Miura, et al.International Journal of Neonatal Screening|July 24, 2026
Pulse Oximetry Screening in the Newborn: Can Modifications to the Screening Algorithm Improve Detection?Andrew K EwerPageof 65