The lived experience and supportive care needs of Australian parents caring for children with Epidermolysis Bullosa: a qualitative descriptive analysis [0.03%]
澳大利亚家长照顾患有交界型大疱性表皮松解症儿童的生活经历和支持护理需求：描述性分析
Hayley Ruf,Colin J Ireland,Lemuel J Pelentsov et al.
Hayley Ruf et al.
Background: Inherited epidermolysis bullosa (EB) is a rare, incurable genodermatosis characterised with recurrent skin blistering and mucosal fragility. Wound care and nursing are critical to everyday lives of children li...
Characterizing individuals with elevated sweat chloride results in the absence of CFTR variants [0.03%]
无CFTR突变但汗液氯化物升高的患者特征分析
Ishmam Bhuiyan,Frank Y Chou,James M Roberts et al.
Ishmam Bhuiyan et al.
Background: Cystic fibrosis (CF) is a multi-system disease caused by CFTR dysfunction. Genetic defects in the CFTR protein cause impaired chloride and bicarbonate secretion on the apical surface of epithelial cells throug...
Population-based estimates of the global prevalence and carrier frequency of apparent mineralocorticoid excess caused by 11β-hydroxysteroid dehydrogenase type 2 deficiency [0.03%]
基于人群的估计：假性盐皮质激素过多症的全球患病率和11β-羟基类固醇脱氢酶二型缺乏引起的携带者频率估算结果
Nipith Charoenngam,Chalermkiat Kansuttiviwat,Palinee Chinsawangwatanakul
Nipith Charoenngam
Background: Apparent mineralocorticoid excess (AME) is a rare autosomal recessive disorder caused by biallelic inactivating variants in the HSD11B2 gene resulting in hypertension and electrolyte abnormalities due to corti...
Late-onset Pompe's disease in pediatrics: results from an Italian national survey on 38 patients and proposal of a targeted diagnostic algorithm [0.03%]
意大利全国对38名患者的晚发型庞培病的儿科调查结果及提出有针对性的诊断算法
Marco Spada,Serena Gasperini,Massimiliano Filosto et al.
Marco Spada et al.
Background: Late-onset Pompe's disease (LOPD) is a progressive treatable metabolic myopathy due to partial acid α-glucosidase (GAA) deficiency, with potential onset during the pediatric age. To date, Pompe's disease is n...
Benefits and pitfalls in newborn screening for carnitine uptake deficiency: a 4-year single-center experience [0.03%]
肉毒碱摄取缺乏症新生儿筛查的益处与缺陷：一项为期四年的单中心研究经验
Mariagrazia Turturo,Alessandro Rossi,Ferdinando Barretta et al.
Mariagrazia Turturo et al.
Background: Carnitine uptake deficiency (CUD) is an inherited disorder caused by SLC22A5 gene variants resulting in low plasma and intracellular carnitine concentrations. Although newborn screening (NBS) enables timely di...
Patient journey to Fabry disease diagnosis in the United States: an observational retrospective analysis of two United States claims databases [0.03%]
美国法布雷病患者的诊疗过程：两项美国索赔数据库的观察性回顾分析
Alexandra Dumitriu,Gandarvaka Miles,Ana Crespo et al.
Alexandra Dumitriu et al.
Background: Fabry disease (FD; OMIM # 301500) is a rare, X-linked lysosomal storage disorder caused by mutations in the α-galactosidase A (GLA) gene. Deficiency or absence of alpha-galactosidase A (α-Gal A) enzyme activ...
Observational Study
Orphanet journal of rare diseases. 2025 Nov 27;20(1):613. DOI:10.1186/s13023-025-04041-3 2025
The benefit of diet on paradoxical breathing and sleep in Osteogenesis imperfecta [0.03%]
饮食对成骨不全症矛盾呼吸和睡眠的影响
Antonella LoMauro,Ramona De Amicis
Antonella LoMauro
We evaluated breathing (i.e.: thoracic contribution to tidal volume in the supine position) and sleep (i.e.: apnea-hypopnea index (AHI)) before and after a 6-month of restricted Mediterranean Diet on 22 volunteers with a confirmed diagnosis...
Epidemiology and economic burden of selected rare genetic diseases in Germany - a claims database study [0.03%]
基于索赔数据库的德国部分罕见遗传病的流行状况及疾病负担研究
Marion Ludwig,Marco Alibone,Raeleesha Norris et al.
Marion Ludwig et al.
Co-creation process of an app for people with rare diseases - a citizen science approach [0.03%]
罕见病患者应用程序的协同创作过程——一种公民科学方法
Jannik Schaaf,Michaela Christina Neff,Jörg Scheidt et al.
Jannik Schaaf et al.
Background: Rare diseases affect a small percentage of the population, leading to challenges such as delayed diagnoses and limited treatment options. Mobile health technologies offer solutions to improve patient outcomes,...
A large French family with TGFBR2 pathogenic variant: illustration of variability [0.03%]
TGFBR2致病性变异的大家族表型异质性的表现
Ludivine Eliahou,Olivier Milleron,Skerdi Haviari et al.
Ludivine Eliahou et al.
Aims: To report aortic events in a large family carrying a variant in the TGFBR2 gene. Methods: Since 1990 up to 2024, we have conducte...