Mark A Applebaum,Ami V Desai,Julia L Glade Bender et al.
Mark A Applebaum et al.
Introduction: Treatment for children with clinically aggressive, high-risk neuroblastoma remains challenging. Less than 50% of patients with high-risk neuroblastoma will survive long-term with current therapies, and survi...
Pathogenesis, diagnosis and therapeutic strategies in WHIM syndrome immunodeficiency [0.03%]
WHIM综合征免疫缺陷的发病机制、诊断与治疗策略
Lauren E Heusinkveld,Erin Yim,Alexander Yang et al.
Lauren E Heusinkveld et al.
21 introduction: WHIM syndrome is a rare combined primary immunodeficiency disorder caused by autosomal dominant gain-of-function mutations in the chemokine receptor CXCR4. It is the only Mendelian condition known to be c...
Pharmacological therapeutics targeting the secondary defects and downstream pathology of Duchenne muscular dystrophy [0.03%]
杜氏肌营养不良症继发缺陷和下游病理的药理治疗
Janelle M Spinazzola,Louis M Kunkel
Janelle M Spinazzola
Introduction: Since the identification of the dystrophin gene in 1986, a cure for Duchenne muscular dystrophy (DMD) has yet to be discovered. Presently, there are a number of genetic-based therapies in development aimed a...
Lucie A Low,Danilo A Tagle
Lucie A Low
Introduction: The technologies used to design, create and use microphysiological systems (MPS, "tissue chips" or "organs-on-chips") have progressed rapidly in the last 5 years, and validation studies of the functional rel...
Galactosialidosis: historic aspects and overview of investigated and emerging treatment options [0.03%]
半乳糖脑苷二硫酸酯蓄积病：治疗方面的历史及研究进展概述
Ida Annunziata,Alessandra d&#x;Azzo
Ida Annunziata
Introduction: Galactosialidosis is a glycoprotein storage disease caused by mutations in the CTSA gene, encoding lysosomal protective protein/cathepsin A (PPCA). The enzyme's catalytic activity is distinct from its protec...
Elisabetta Soragni,Joel M Gottesfeld
Elisabetta Soragni
Introduction: Friedreich's ataxia (FRDA) is an autosomal recessive neurodegenerative disease caused by expansion of a GAA·TTC triplet in the first intron of the FXN gene, encoding the essential mitochondrial protein frat...
Kazuki Sawamoto,Yasuyuki Suzuki,William G Mackenzie et al.
Kazuki Sawamoto et al.
Introduction: Morquio A syndrome is characterized by a unique skeletal dysplasia, leading to short neck and trunk, pectus carinatum, laxity of joints, kyphoscoliosis, and tracheal obstruction. Cervical spinal cord compres...
Neurobiologically-based treatments in Rett syndrome: opportunities and challenges [0.03%]
雷特综合征的神经生物学治疗：机遇与挑战
Walter E Kaufmann,Jennifer L Stallworth,David B Everman et al.
Walter E Kaufmann et al.
Introduction: Rett syndrome (RTT) is an X-linked neurodevelopmental disorder that primarily affects females, typically resulting in a period of developmental regression in early childhood followed by stabilization and severe chronic cogniti...
CFTR Modulator Therapies in Pediatric Cystic Fibrosis: Focus on Ivacaftor [0.03%]
针对囊性纤维化儿童的CFTR调控疗法：伏拉瑞韦的应用进展
Elizabeth L Kramer,John P Clancy
Elizabeth L Kramer
Introduction: Mutations in the cystic fibrosis transmembrane conductance regulator protein (CFTR) cause cystic fibrosis (CF), a disease with life threatening pulmonary and gastrointestinal manifestations. Recent breakthro...
Prospect and progress of oncolytic viruses for treating peripheral nerve sheath tumors [0.03%]
溶瘤病毒治疗外周神经鞘源性肿瘤的研究进展与展望
Slawomir Antoszczyk,Samuel D Rabkin
Slawomir Antoszczyk
Introduction: Peripheral nerve sheath tumors (PNSTs) are an assorted group of neoplasms originating from neuroectoderm and growing in peripheral nerves. Malignant transformation leads to a poor prognosis and is often leth...