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Journal: Int. J. Neonatal Screen., 2025
Volume: 11
Number: 68

Article: Novel Phenotypic Insights into the IDS c.817C>T Variant in Mucopolysaccharidosis Type II from Newborn Screening Cohorts
Authors: by Éliane Beauregard-Lacroix, Caitlin Menello, Madeline Steffensen, Hsiang-Yu Lin, Chih-Kuang Chuang, Shuan-Pei Lin and Can Ficicioglu
Link: https://www.mdpi.com/2409-515X/11/3/68

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