Impaired mitochondrial morphology and respiratory dysfunction in human induced pluripotent stem cells with mitochondrial tRNA mutations (m.3243A>G and m.14739G>A) [0.03%]
人诱导多能干细胞中线粒体tRNA突变（m.3243A>G和m.14739G>A）导致形态异常及呼吸功能障碍
Fibi Meshrkey,Kelly M Scheulin,Bibhuti Saikia et al.
Fibi Meshrkey et al.
Foramen magnum stenosis, cervicomedullary decompression, and growth in children with achondroplasia: a retrospective cohort study [0.03%]
扁骨发育不全患儿枕骨大孔狭窄及颈髓减压术后生长状况的回顾性队列研究
Daniela Fava,Alessia Angelelli,Caterina Tedesco et al.
Daniela Fava et al.
Addressing the unmet challenge of pain in rare bone diseases: new insights from the RUDY UK registry [0.03%]
罕见骨病患者的疼痛挑战及RUDY英国注册研究的新见解
Melanie Alice Legrand,Franz Aaron Clemeno,Roland Chapurlat et al.
Melanie Alice Legrand et al.
Background: Pain is a common symptom in many rare bone disorders, often linked to depression and a substantial decline in quality of life. However, there is little information on the quality of the pain which may provide ...
Pediatric patients with tenosynovial giant cell tumor: real-world evidence from an observational registry [0.03%]
儿童滑膜巨细胞肿瘤患者：来自观察性注册表的现实世界证据
Sydney Stern,Patrick F McKenzie,Giacomo G Baldi et al.
Sydney Stern et al.
Background: Tenosynovial giant cell tumor (TGCT) is a rare, locally aggressive tumor originating in the synovial lining of the joint, bursa, and tendon sheath. TGCT typically affects individuals between 20 and 50 years of...
A novel germline CDH23 variant as a likely cause of an ultra-giant prolactinoma [0.03%]
一种新颖的CDH23胚系变异可能是超大型泌乳素瘤的原因
Eman Albasri,Balgees Alghamdi,Avaniyapuram Kannan Murugan et al.
Eman Albasri et al.
Giant prolactinomas are defined as pituitary adenomas (PAs) ≥ 4 cm with plasma prolactin level > 1000 ng/ml with no other co-secretory component. The reasons for development of giant prolactinomas are not clear but genetics play an importa...
Isobutyryl-coenzyme a dehydrogenase deficiency: disease, or non-disease? [0.03%]
异丁酰辅酶A脱氢酶缺乏症：疾病还是非疾病？
María Daniela Santacruz Reyes,Jörn Oliver Sass
María Daniela Santacruz Reyes
Background: Isobutyryl-coenzyme A dehydrogenase deficiency (IBDD) is a rare inborn error of valine metabolism caused by variants in the ACAD8 gene. Since its initial description in 1998, a wide range of clinical features ...
Development of national biobank for lysosomal storage disorders in India- a step towards advancing research and precision medicine [0.03%]
印度全国溶酶体贮积病生物库的建立——迈向研究和精准医疗的一小步
Jayesh Sheth,Aadhira Nair,Riddhi Bhavsar et al.
Jayesh Sheth et al.
Background: Lysosomal storage disorders (LSDs) are a diverse group of over 70 rare, inherited metabolic conditions that present significant diagnostic and therapeutic challenges, especially in genetically diverse and reso...
Levels and correlates of pandemic anxiety in people living with rare diseases: a cross-sectional analysis using a structural equation model [0.03%]
罕见疾病患者的疫情焦虑水平及影响因素：结构方程模型的横断面分析
Hermann Siebel,David Zybarth,Laura Inhestern
Hermann Siebel
Background: Within the context of the COVID-19 pandemic and beyond, pandemic anxiety (PA) is of high social and psychopathological relevance. Compared to the general population and people living with common diseases, peop...
Healthcare utilization patterns and costs related to neurofibromatosis 1 in Ontario, Canada [0.03%]
加拿大安大略省神经纤维瘤病1型相关的医疗利用情况和费用模式
Ajith Sivadasan,Alejandro Hernandez,Elisa Candido et al.
Ajith Sivadasan et al.