Wiskott-Aldrich syndrome with normal platelet volume in a low-income setting: a case report [0.03%]
低资源环境下一例血小板体积正常型威斯科特-奥尔德里奇综合征病例报告
William Frank Mawalla,Hamisa Iddy,Christine Aloyce Kindole et al.
William Frank Mawalla et al.
Wiskott-Aldrich syndrome (WAS) is a rare immunodeficiency X-linked genetic disorder. It is often featured with a clinical triad of thrombocytopenia with low mean platelet volume, eczematoid dermatitis and recurrent infections. The clinical ...
Improving patient informed consent for haemophilia gene therapy: the case for change [0.03%]
改善血友病基因治疗的患者知情同意书：变革的理由
Laurence Woollard,Richard Gorman,Dakota J Rosenfelt
Laurence Woollard
Adeno-associated virus-based gene therapy points to a coming transformation in the treatment of people living with haemophilia, promising sustained bleed control and potential improvement in quality of life. Nevertheless, the consequences o...
Tiina Urv
Tiina Urv
Philippa Harding,Dulce Lima Cunha,Mariya Moosajee
Philippa Harding
Microphthalmia is a rare developmental eye disorder affecting 1 in 7000 births. It is defined as a small (axial length ⩾2 standard deviations below the age-adjusted mean) underdeveloped eye, caused by disruption of ocular development throu...
Enzyme replacement therapy in lysosomal acid lipase deficiency (LAL-D): a systematic literature review [0.03%]
溶酶体酸性脂酶缺乏症（LAL-D）中酶替代疗法的系统文献回顾
Aamir Bashir,Pramil Tiwari,Ajay Duseja
Aamir Bashir
Background: Lysosomal acid lipase deficiency (LAL-D) is a very rare genetic abnormality caused by LIPA gene mutation. The disease has two distinct clinical variants in humans: Wolman disease in infants and cholesteryl est...
Wolfram syndrome: new pathophysiological insights and therapeutic strategies [0.03%]
Wolfram综合征：新的病理生理学见解和治疗策略
Ratnakar Mishra,Benson S Chen,Prachi Richa et al.
Ratnakar Mishra et al.
Wolfram Syndrome (WS) is an ultra-rare, progressive neurodegenerative disease characterized by early-onset diabetes mellitus and irreversible loss of vision, secondary to optic nerve degeneration. Visual loss in WS is an important cause of ...
Novel therapeutics in nystagmus: what has the genetics taught us so far? [0.03%]
遗传学教会了我们什么新的治疗方法来治疗眼球震颤？
Jay E Self,Helena Lee
Jay E Self
Nystagmus is a disorder characterised by uncontrolled, repetitive, to-and-fro movement of the eyes. It can occur as a seemingly isolated disorder but is most commonly the first, or most obvious, feature in a host of ophthalmic and systemic ...
Wing Sum Vincent Ng,Matthieu Trigano,Thomas Freeman et al.
Wing Sum Vincent Ng et al.
Mitochondrial optic neuropathies are a group of optic nerve atrophies exemplified by the two commonest conditions in this group, autosomal dominant optic atrophy (ADOA) and Leber's hereditary optic neuropathy (LHON). Their clinical features...
Sally Hayes,Siân R Morgan,Keith M Meek
Sally Hayes
Keratoconus is a condition in which the cornea progressively thins and weakens, leading to severe, irregular astigmatism and a significant reduction in quality of life. Although the precise cause of keratoconus is still not known, biochemic...
Beyond pigmentation: signs of liver protection during afamelanotide treatment in Swiss patients with erythropoietic protoporphyria, an observational study [0.03%]
色素沉着以外的肝保护迹象：一项有关 afamelanotide 治疗瑞士患者的观察性研究
Anna-Elisabeth Minder,Jasmin Barman-Aksoezen,Mathias Schmid et al.
Anna-Elisabeth Minder et al.
Erythropoietic protoporphyria (EPP) is an ultra-rare inherited disorder with overproduction of protoporphyrin in maturating erythroblasts. This excess protoporphyrin leads to incapacitating phototoxic burns in sunlight exposed skin. Its bil...