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Updated: Jan 24, 2026

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在成年期被诊断患有遗传代谢疾病的患者的评估

Zumrut Arslan Gulten1, Umran Cetincelik2, Arda Guler3

  • 1Department of Pediatrics, University of Health Sciences Türkiye, Sisli Hamidiye Etfal Training and Research Hospital, Division of Pediatric Metabolism, Istanbul, Türkiye.

Sisli Etfal Hastanesi tip bulteni
|January 23, 2026
PubMed
概括

被诊断为遗传代谢疾病 (IMD) 的成年人经常出现慢性症状,导致诊断延迟. 提高认识和进一步的研究对于及时检测和管理这些罕见的遗传疾病至关重要.

关键词:
成年人 成年人 成年人 成年人 成年人 成年人提高疾病意识.遗传代谢性疾病遗传性代谢性疾病治疗治疗治疗治疗治疗治疗

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