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Systematic Analysis of Multiple Imaging Modalities in Infants Diagnosed with Mucopolysaccharidosis by Newborn Screening

Chung-Lin Lee, Szu-Wen Chang, Hung-Hsiang Fang,Chih-Kuang Chuang,Huei-Ching Chiu,Ya-Hui Chang, Yuan-Rong Tu,Yun-Ting Lo, Jun-Yi Wu,Hsiang-Yu Lin,Shuan-Pei Lin

Diagnostics (Basel, Switzerland)(2025)

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Key words
mucopolysaccharidosis,newborn screening,skeletal radiography,cardiac ultrasonography,abdominal ultrasonography,early diagnosis,biomarkers,imaging assessment,lysosomal storage disease,genotype–phenotype correlation
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