肺部疾病和罕见疾病:这是一个溶酶体储存疾病吗? 不同诊断,病原遗传机制和管理

Chiara Montanari1,2, Veronica Maria Tagi1,2, Enza D'Auria1,2

  • 1Department of Pediatrics, Vittore Buzzi Children's Hospital, University of Milan, 20154 Milan, Italy.

PubMed
概括

儿科肺病学家可以通过识别呼吸系统症状来诊断罕见的溶酶体储存疾病 (LSD). 早期诊断和治疗LSD对于管理肺功能和防止进一步损伤至关重要.

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