罕见疾病:分子诊断的实施,病原体洞察力和精准医学治疗
Lidia Larizza1, Maria Vittoria Cubellis2,3,4
1Experimental Research Laboratory of Medical Cytogenetics and Molecular Genetics, IRCCS Istituto Auxologico Italiano, Via Ariosto 13, 20145 Milan, Italy.
International journal of molecular sciences
|May 27, 2023
概括
罕见疾病 (RD) 缺乏普遍的定义,标准在全球范围内有所不同. 这种模糊性会影响研究和患者获得护理的机会.
科学领域:
- 医学科学 医学科学 医学科学
- 公共卫生 公共卫生
背景情况:
- 罕见疾病 (RD) 缺乏一个标准化的全球定义.
- 流行标准在不同地区之间有很大的差异,例如欧盟的<5每10,000人,而全球平均值为40每10万人.
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