Rare Disease Day, observed on February 28th, aims to raise awareness about rare diseases and the challenges faced by patients ...

在医学的神秘世界里，有一种病症叫做骨硬化症（Osteopetrosis，OP），它还有个形象的名字，叫大理石骨病。这可不是一般的疾病，它会让骨头变得异常坚硬，就像大理石一样，同时还会引发一系列让人头疼的问题。 骨硬化症是一组高度异质性的遗传性骨病 ...

该研究对临床诊疗和遗传咨询意义重大，值得一读。 在医学的神秘世界里，有一种奇特的疾病 —— 骨硬化症（Osteopetrosis，OP），它还有个形象的别名，叫大理石骨病。这可不是一般的疾病，患者的骨头会变得异常致密，就像被 “石化” 了一样，同时还伴随着 ...

osteopetrosis, SLC4A2-related, cattle (MONDO:1012898) early-onset retinal dystrophy, Bengal, domestic cat (MONDO:1012717) osteogenesis imperfecta, COL1A2-related, dog (MONDO:1012791) porcine stress ...

Bone defect and repair is a common but difficult problem in restorative and reconstructive surgery. Bone tissue defects of different sizes caused by different reasons bring functional limitations and ...

Objectives Bone destruction in rheumatoid arthritis is mediated by osteoclasts (OC), which are derived from precursor cells of the myeloid lineage. The role of the two monocyte subsets, classical ...

Microglia, the resident macrophages of the central nervous system (CNS), play a critical role in CNS homeostasis and neuroinflammation. Pexidartinib (PLX3397), a colony-stimulating factor 1 (CSF1) ...

Government of India has provided tax relief on life-saving drugs and medicines used for rare diseases. As per the Ministry of Finance’s response in Rajya Sabha on February 11, 2025, basic customs duty ...