Diagnostic delay in late‐onset Pompe disease among Chinese patients: A retrospective study
Dongyue Yue,
Kexin Jiao,
Xingyu Xia
et al.
Abstract:Surveys and retrospective studies have revealed considerable delays in diagnosing late‐onset Pompe disease (LOPD) in China, where the contributing factors remain poorly represented. Our study analyzed the diagnostic journey of 34 LOPD patients seen at our neuromuscular clinic from 2005 to 2022. We defined diagnostic delay as the time from the onset of the first relevant symptoms and laboratory findings suggestive of LOPD to the eventual diagnosis, and we constructed a correlation matrix to assess relationships… Show more
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