Genetics, diagnosis, and future treatment strategies for primary ciliary dyskinesia [0.03%]
原发性纤毛运动障碍的遗传学、诊断和未来治疗策略
M Leigh Anne Daniels,Peadar G Noone
M Leigh Anne Daniels
Introduction: Primary ciliary dyskinesia (PCD) is a genetically heterogeneous recessive disorder resulting in chronic oto-sino-pulmonary disease. While PCD is estimated to occur in 1 in 20,000 individuals, fewer than 1,00...
Enzyme replacement therapy for treating mucopolysaccharidosis type IVA (Morquio A syndrome): effect and limitations [0.03%]
用于治疗I瓦型黏多糖病（莫尔奎奥综合征）的酶替代疗法：疗效和局限性
Shunji Tomatsu,Kazuki Sawamoto,Tsutomu Shimada et al.
Shunji Tomatsu et al.
Introduction: Following a Phase III, randomized, double-blind, placebo (PBO)-controlled, multinational study in subjects with mucopolysaccharidosis IVA (MPS IVA), enzyme replacement therapy (ERT) of elosulfase alfa has be...
Pathogenesis, Emerging therapeutic targets and Treatment in Sialidosis [0.03%]
黏蛋白储积症Ⅰ型的发病机制及治疗靶点和治疗进展
Alessandra d&#x;Azzo,Eda Machado,Ida Annunziata
Alessandra d&#x;Azzo
Introduction: Sialidosis is a neurosomatic, lysosomal storage disease (LSD) caused by mutations in the NEU1 gene, encoding the lysosomal sialidase NEU1. Deficient enzyme activity results in impaired processing/degradation...
Valder R Arruda,Ben J Samelson-Jones
Valder R Arruda
Introduction: The recent success of early-phase clinical trials for adeno-associated viral (AAV) liver-directed gene therapy for hemophilia B (HB) demonstrates the potential for gene therapy, in the future, to succeed pro...
Therapeutic Strategies for Treatment of Pulmonary Lymphangioleiomyomatosis (LAM) [0.03%]
肺淋巴管肌瘤病(LAM)的治疗策略
Vera P Krymskaya
Vera P Krymskaya
Introduction: Pulmonary lymphangioleiomyomatosis (LAM) is a rare progressive lung disease affecting almost exclusively women. Neoplastic growth of atypical smooth muscle-like cells in the lung induces destruction of lung ...
Michael D Briggs,Peter A Bell,Michael J Wright et al.
Michael D Briggs et al.
Introduction: Genetic skeletal diseases (GSDs) are a diverse and complex group of rare genetic conditions that affect the development and homeostasis of the skeleton. Although individually rare, as a group of related diseases, GSDs have an ...
Julian Ramos,Jeffrey S Chamberlain
Julian Ramos
Introduction: Duchenne muscular dystrophy (DMD) is a relatively common inherited disorder caused by defective expression of the protein dystrophin. The most direct approach to treating this disease would be to restore dys...
Clinical Features, Genetics and Potential Therapeutic Approaches for Birt-Hogg-Dubé Syndrome [0.03%]
Birt-Hogg-Dubé综合征的临床特征、遗传学和潜在治疗途径
Laura S Schmidt,W Marston Linehan
Laura S Schmidt
Introduction: Birt-Hogg-Dubé (BHD) syndrome is an autosomal dominant disorder that predisposes to fibrofolliculomas, pulmonary cysts, spontaneous pneumothorax and renal neoplasia. BHD is characterized by germline mutatio...
Pathogenic mechanisms and the prospect of gene therapy for choroideremia [0.03%]
病因机制及视网膜脉络膜萎缩基因治疗展望
Ioannis S Dimopoulos,Stephanie Chan,Robert E MacLaren et al.
Ioannis S Dimopoulos et al.
Introduction: Choroideremia is a rare, X-linked disorder recognized by its specific ocular phenotype as a progressive degenerative retinopathy resulting in blindness. New therapeutic approaches, primarily based on genetic...
Improvement in vision: a new goal for treatment of hereditary retinal degenerations [0.03%]
遗传性视网膜变性疾病治疗的新目标——改善视力
Samuel G Jacobson,Artur V Cideciyan,Gustavo D Aguirre et al.
Samuel G Jacobson et al.
Introduction: Inherited retinal degenerations (IRDs) have long been considered untreatable and incurable. Recently, one form of early-onset autosomal recessive IRD, Leber congenital amaurosis (LCA) caused by mutations in RPE65 (retinal pigm...