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Updated: Jun 2, 2025

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超越皮肤学发现:多系统参与化酶缺乏症

Ezgi Yalcin Gungoren1,2,3, Zeynep Meric4, Asena Pinar Sefer1,2,3

  • 1Division of Allergy and Immunology, Department of Pediatrics, Marmara University Faculty of Medicine, İstanbul, Türkiye.

Turkish archives of pediatrics
|January 13, 2025
PubMed
概括

普利达酶缺乏症是一种罕见的遗传性疾病,表现出各种症状,包括皮肤问题,发育迟缓和频繁的感染. 这项研究强调了非典型的特征,如机会性感染和恶性瘤,表明它可能被诊断不足.

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