Successful combined umbilical cord blood and bone marrow transplantation from an HLA-matched sibling for MPS VI: a case report [0.03%]
成功进行的黏多糖贮积症VI型同胞相合脐血和骨髓混合移植病例报告
Pankti Haria,Vinayak Kedage,Pradnya Dalvi et al.
Pankti Haria et al.
Mucopolysaccharidosis type VI (MPS VI), also known as Maroteaux-Lamy syndrome, polydystrophic dwarfism, and arysulfatase B (ASB) deficiency, is a lysosomal storage disorder with autosomal recessive inheritance characterized by progressive m...
Left-sided valvular heart disease and retinopathy in a 38-year-old woman with attenuated mucopolysaccharidosis: a case report [0.03%]
左瓣膜性心脏疾病的黏多糖贮积症患者并发视网膜病变的病例报告
Faizal Z Asumda,Jessica A Kraker,Sarah C Thomas et al.
Faizal Z Asumda et al.
Mucopolysaccharidoses (MPS) are a group of inherited lysosomal storage disorders caused by deficient levels and/or activity of glycosaminoglycan (GAG)-degradative enzymes. MPS are characterized by accumulation of the mucopolysaccharides hep...
Papilledema and retinopathy lead to diagnosis of IgA nephropathy: a case report [0.03%]
视乳头水肿和视网膜病变为IgA肾病的临床表现：病例报告
James T Kwan,Erin Lanzo,David J Ramsey et al.
James T Kwan et al.
This case features a young healthy male who was diagnosed with immunoglobulin A (IgA) nephropathy after presenting with blurry vision that was caused by hypertensive retinopathy and papilledema. In this report, we examine the relationship b...
Samantha Taylor
Samantha Taylor
Suzannah J Bell,Ngozi Oluonye,Philippa Harding et al.
Suzannah J Bell et al.
Worldwide 20,000-40,000 children with congenital or childhood cataract are born every year with varying degrees and patterns of lens opacification with a broad aetiology. In most cases of bilateral cataract, a causative genetic mutation can...
Role of red free imaging, retinal reflectance and fundus autofluorescence in Bietti crystalline dystrophy: case report [0.03%]
Bietti结晶样视网膜色素上皮 dystrophy的红光免成像、视网膜反光及眼底自发荧光的表现及意义报告1例
Abhidnya Surve,Akshaya Balaji,Shorya Vardhan Azad et al.
Abhidnya Surve et al.
Bietti crystalline dystrophy (BCD), a rare autosomal recessive hereditary disorder, is identified by its clinical features. It is characterised by crystalline deposits and hence called crystalline retinopathy. The retinopathy progresses wit...
A review of the treatment landscape in paroxysmal nocturnal haemoglobinuria: where are we now and where are we going? [0.03%]
评估阵发性睡眠性血红蛋白尿治疗现状：我们目前处于什么位置？未来将去向何方？
Morag Griffin,Richard Kelly,Alexandra Pike
Morag Griffin
Paroxysmal nocturnal haemoglobinuria (PNH) is an ultra-orphan disease, which until 15 years ago had limited treatment options. Eculizumab, a monoclonal antibody that inhibits C5 in the terminal complement cascade, has revolutionised treatme...
Conservative management of a fourth ventricular epidermoid in a patient with Gardner syndrome [0.03%]
伽德纳综合征患者的第四脑室表皮样囊肿的保守治疗
Gordon D Heller
Gordon D Heller
Gardner Syndrome is a rare disease with clinical manifestations of familial intestinal polyposis with osteomas. Cutaneous and subcutaneous lesions are common and epidermoid cyst is a characteristic dermatologic finding. This case report pre...
Martin Snead,Howard Martin,Peter Bale et al.
Martin Snead et al.
The Stickler syndromes are the leading cause of inherited retinal detachment and the most common cause of rhegmatogenous retinal detachment in childhood. The clinical and molecular genetic spectrum of this connective tissue disorder is disc...
Therapeutic angiogenesis in Buerger's disease: reviewing the treatment landscape [0.03%]
布氏杆菌病的治疗性血管生成：回顾治疗现状
Antoine J Ribieras,Yulexi Y Ortiz,Zhao-Jun Liu et al.
Antoine J Ribieras et al.
Thromboangiitis obliterans, also known as Buerger's disease, is a rare inflammatory vasculitis that predominantly develops in smokers and characteristically affects the small- and medium-sized peripheral arteries and veins. Patients typical...