Mitochondrial DNA A3243G variant: Current perspectives and clinical implications [0.03%]
线粒体DNA A3243G变异：当前观点与临床意义
Kuan-Yu Chu
Kuan-Yu Chu
The mitochondrial DNA A3243G variant, located in the MT-TL1 gene encoding tRNALeu(UUR), represents one of the most clinically significant pathogenic mitochondrial mutations. This point mutation accounts for approximately 80% of Mitochondria...
Challenges in Japan's dual systems of support for pediatric and adult intractable diseases [0.03%]
日本难治性疾病的儿童和成人双支持系统面临的挑战
Kenji Karako,Peipei Song
Kenji Karako
Japan has developed two separate frameworks to support patients with chronic and rare diseases: the Specified Pediatric Chronic Diseases (SPCD) Program and the Designated Intractable Diseases (DID) System. Although both aim to provide medic...
A scoping review of dietary interventions to treat obesity among Prader-Willi syndrome individuals [0.03%]
用于治疗普拉德-威利综合征患者肥胖的饮食干预措施的综述性研究
Marwa Aman,Haslina Abdul Hamid,Roslee Rajikan
Marwa Aman
Prader-Willi syndrome (PWS) is a genetic disorder resulting from the absence of paternal 15q11-q13 alleles and is clinically characterised by pathological obesity, delayed satiety, hyperphagia, decreased muscle mass, and increased fat mass....
Factors associated with diagnostic delays in Peruvian patients with rare diseases [0.03%]
秘鲁罕见病患者诊断延迟的相关因素分析
Araceli Margot Falen Solís,Hugo Hernán Abarca Barriga
Araceli Margot Falen Solís
Rare diseases affect fewer than 1 in 2,000 individuals. Patients often encounter barriers to specialist care and prompt diagnosis, hindering effective disease management and access to appropriate treatments. This study aimed to identify det...
Clinical and genetic study of a family with epidermolysis bullosa simplex caused by a novel KRT5 gene mutation c.987C>G (p.Asn329Lys) [0.03%]
KRT5基因新突变c.987C>G(p.Asn329Lys)所致单纯性天疱疮的临床及遗传研究
Ruohan Zhang,Xu Chen,Zhenying Wang et al.
Ruohan Zhang et al.
This study investigated the association between the novel KRT5 gene mutation c.987C>G (p.Asn329Lys) and the clinical phenotype of epidermolysis bullosa simplex (EBS), to provide a basis for the molecular diagnosis and genetic counseling of ...
Clinical and genetic characteristics of late-onset cobalamin C deficiency: A multicenter study in northern China [0.03%]
中国北方地区维生素B12C型缺乏症迟发病例的临床和基因特征分析：多中心研究
Han Zhang,Yanping Wei,Yuan Sun et al.
Han Zhang et al.
Late-onset cobalamin C (cblC) deficiency, an inherited metabolic disorder, is often misdiagnosed due to its heterogeneous clinical presentation. This study aims to characterize the clinical and genetic spectrum of late-onset cblC deficiency...
Early screening for respiratory and cardiac complications in pediatric mucopolysaccharidosis IVA: Insights from a case [0.03%]
黏多糖贮积症IVA型患儿呼吸及心脏并发症的早期筛查——一例报告及其启示
Haiyan Shu,Xiaohong Shang,Yan Sun et al.
Haiyan Shu et al.
Mucopolysaccharidosis type IVA (MPS IVA) is a rare genetic disorder characterized by the deficiency of N-acetylgalactosamine-6-sulfate sulfatase, leading to significant growth and developmental challenges, increased morbidity, and reduced l...
AI-driven enhancements in rare disease diagnosis and support system optimization [0.03%]
人工智能驱动的罕见病诊断及支持系统优化增强技术
Xin Wang,Da He,Chunlin Jin
Xin Wang
Rare diseases are characterized by an extremely low prevalence, high phenotypic heterogeneity, and complex pathogenesis. This combination of factors presents significant challenges, including prolonged diagnostic delays, lack of standardize...
Advances in research on congenital and hereditary intestinal diseases: From molecular mechanisms to precision medicine [0.03%]
遗传性和先天性肠病研究进展：从分子机制到精准医疗
Lichao Yang,Yu Wang,Lianwen Yuan et al.
Lichao Yang et al.
Congenital and hereditary intestinal diseases are a group of major disorders caused by gene mutations or embryonic developmental anomalies and are characterized by diverse clinical manifestations and complex management. This review systemat...
Characteristics of rare diseases cases: A summary analysis of hospitalized patients at a hospital in Western China from 2015 to 2023 [0.03%]
2015-2023年我国西部某医院住院罕见病病例特征总结分析
Qi Wang,Liang Guo,Yan Yang et al.
Qi Wang et al.
Rare diseases, characterized by low prevalence and high heterogeneity, impose a significant burden on patients and healthcare systems globally. Utilizing clinical data from the Hospital Information System's Patient Discharge Summaries (2015...