Retinal detachment [0.03%]
视网膜脱落
Jonathan B Lin,Raja Narayanan,Elise Philippakis et al.
Jonathan B Lin et al.
Retinal detachment (RD) occurs when the neurosensory retina, the neurovascular tissue responsible for phototransduction, is separated from the underlying retinal pigment epithelium (RPE). Given the importance of the RPE for optimal retinal ...
Alkaptonuria [0.03%]
alkaptonuria病症
Giulia Bernardini,Daniela Braconi,Andrea Zatkova et al.
Giulia Bernardini et al.
Alkaptonuria is a rare inborn error of metabolism caused by the deficiency of homogentisate 1,2-dioxygenase activity. The consequent homogentisic acid (HGA) accumulation in body fluids and tissues leads to a multisystemic and highly debilit...
Rare diseases: challenges and opportunities for research and public health [0.03%]
罕见病:对研究和公共健康提出挑战与机遇
Domenica Taruscio,William A Gahl
Domenica Taruscio
Inga Zerr,Anna Ladogana,Simon Mead et al.
Inga Zerr et al.
Prion diseases share common clinical and pathological characteristics such as spongiform neuronal degeneration and deposition of an abnormal form of a host-derived protein, termed prion protein. The characteristic features of prion diseases...
Stephen V Faraone,Mark A Bellgrove,Isabell Brikell et al.
Stephen V Faraone et al.
Attention-deficit/hyperactivity disorder (ADHD; also known as hyperkinetic disorder) is a common neurodevelopmental condition that affects children and adults worldwide. ADHD has a predominantly genetic aetiology that involves common and ra...
Josep M Llovet,Robin Kate Kelley,Augusto Villanueva et al.
Josep M Llovet et al.
Published Erratum
Nature reviews. Disease primers. 2024 Feb 12;10(1):10. DOI:10.1038/s41572-024-00500-6 2024
Rotator cuff tears [0.03%]
旋转袖撕裂
Asheesh Bedi,Julie Bishop,Jay Keener et al.
Asheesh Bedi et al.
Rotator cuff tears are the most common upper extremity condition seen by primary care and orthopaedic surgeons, with a spectrum ranging from tendinopathy to full-thickness tears with arthritic change. Some tears are traumatic, but most rota...
Strongyloidiasis [0.03%]
丝虫病
Catherine A Gordon,Jürg Utzinger,Stephen Muhi et al.
Catherine A Gordon et al.
Strongyloidiasis is a neglected tropical disease caused primarily by the roundworm Strongyloides stercoralis. Strongyloidiasis is most prevalent in Southeast Asia and the Western Pacific. Although cases have been documented worldwide, globa...