Evaluating brain white matter hyperintensity, IQ scores, and plasma neurofilament light chain concentration in early-treated patients with infantile-onset Pompe disease

Yu-Kang Hsu,Yin-Hsiu Chien,Steven Shinn-Forng Peng,Wuh-Liang Hwu,Wang-Tso Lee,Ni-Chung Lee,Eric Po-Yu Huang,Wen-Chin Weng

Genetics in Medicine（2023）

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摘要

Our results suggest that the progression of CNS involvement in IOPD may be associated with neuroaxonal injury and decreased IQ scores. NfL could serve as a biomarker for CNS involvement in IOPD.

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关键词

Brain MRI,Infantile-onset Pompe disease,IQ score,Neuroaxonal injury,Neurofilament light chain

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