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Updated: May 8, 2025

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:一种罕见的疾病,具有多器官表现和期待已久的诊断

Anne Drasbech Gundersen1, Morten Hornemann Borg2, Anders Løkke3

  • 1Lungemedicinsk, Vejle Sygehus, Vejle, Denmark a-gundersen@hotmail.com.

BMJ case reports
|December 27, 2024
PubMed
概括

阿尔卡普托努里亚是一种罕见的遗传性疾病,导致同质性酸的积累. 本案例研究详细介绍了一个晚诊的男性患者及其双胞胎,强调罕见遗传性疾病中各种症状和诊断挑战.

关键词:
遗传学 遗传学是一种遗传学.肌肉骨和关节疾病 肌肉骨和关节疾病眼科医生 眼科 眼科蛋白质尿症是一种蛋白质尿症.膜疾病 膜疾病

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