Expiratory phase lung mechanics in late-onset Pompe disease: a multicenter study using oscillometry to identify specific breathing abnormalities [0.03%]
振荡法在晚发型庞贝病中检测呼气末肺力学异常的多中心研究
Grazia Crescimanno,Oreste Marrone,Marta Lazzeri et al.
Grazia Crescimanno et al.
Introduction: In late-onset Pompe disease (LOPD), muscle weakness causes restrictive lung impairment. In murine models, glycogen deposition in lung parenchyma suggests additional causes for restriction that remain poorly ...
Multicenter Study
Orphanet journal of rare diseases. 2026 Aug 7;21(1):269. DOI:10.1186/s13023-026-04532-x 2026
Correction to: Quality of life in children and adults with epidermolysis bullosa: the QoL-REB explorative study [0.03%]
对：皮肤病牙齿脱落的患者的生活质量：QoL-REB探索性研究的更正
Cinzia Pilo,Laura Benedan,Valentina Morra et al.
Cinzia Pilo et al.
Published Erratum
Orphanet journal of rare diseases. 2026 Aug 7;21(1):268. DOI:10.1186/s13023-026-04529-6 2026
Assessment of cardiometabolic risk using single point insulin sensitivity estimator (SPISE) in pediatric Bardet-Biedl Syndrome: a pilot study [0.03%]
单点胰岛素敏感性估算器（SPISE）在儿童Bardet-Biedl综合征中评估心血管代谢风险的初步研究
Tugce Kandemir,Melek Yildiz,Ummahan Tercan et al.
Tugce Kandemir et al.
Background: Bardet-Biedl syndrome (BBS) carries early cardiometabolic risk, yet pediatric screening is complicated by growth and puberty. The metabolic syndrome (MetS) z-score provides a continuous benchmark for clustered...
Management of patients with rare diseases in the Middle East: challenges & opportunities - insights from the Rare Advocacy Council [0.03%]
中东地区罕见病患者的管理：挑战与机遇——罕见病倡导理事会的见解
Agnès Farrugia,Ahmed Bahey,Ahmad Tarawah et al.
Agnès Farrugia et al.
Background: Rare diseases affect a small percentage of the population but collectively impact millions worldwide. In the Middle East, the challenges are intensified by regional factors such as high rates of consanguinity,...
Correction: Randomized investigation to evaluate phenylalanine fluctuation after overnight fasting in PKU patients treated with prolonged-release versus standard amino acid protein substitute [0.03%]
纠正：PKU患者使用长效释放与标准氨基酸蛋白替代物治疗后隔夜禁食导致苯丙氨酸波动的随机研究
Anne Daly,Fatma Ilgaz,Sharon Evans et al.
Anne Daly et al.
Published Erratum
Orphanet journal of rare diseases. 2026 Jul 31;21(1):261. DOI:10.1186/s13023-026-04386-3 2026
Defining the therapeutic corridor of stability in enzyme replacement therapy for Pompe disease: a position statement [0.03%]
稳定酶替代治疗庞贝病的治疗窗：立场声明
Benedikt Schoser
Benedikt Schoser
Background: Pompe disease, also known as glycogen storage disease type II, is a rare, progressive lysosomal storage disorder caused by pathogenic variants in the GAA gene. Enzyme replacement therapy has transformed the na...
Launching a multi-level data strategy for rare eye diseases: a methodological case study from national to European scale [0.03%]
罕见眼病多层次数据策略的实施：从国家到欧洲层面的方法学案例研究
Camille Beluffi-Marin,Marilyne Oswald,Isabella Anna Vacchi et al.
Camille Beluffi-Marin et al.
Rare eye diseases bring unique challenges in clinical research and patient care due to their heterogeneity, low prevalence, and dispersed expertise. To address these challenges, an integrated multilevel data strategy has been developed in F...
Eating behaviour phenotype in the MYT1L-related neurodevelopmental disorder: a deep phenotyping study using standardized questionnaires [0.03%]
MYT1L相关神经发育障碍的进食行为表型：使用标准化问卷进行深入表型研究
Juliette Coursimault,Emilie Guillon,François Lecoquierre et al.
Juliette Coursimault et al.
Background: The MYT1L-related neurodevelopmental disorder (MRND) is associated with global motor and language delay, intellectual disability, behavioural disturbances, epilepsy and frequent early-onset obesity. Eating dis...
Clinical outcomes in alpha-mannosidosis: a systematic review of therapeutic approaches [0.03%]
α-岩藻糖苷贮积症的临床转归：治疗手段的系统性回顾
Arezki Azzi,Reem Bin Shlhoob,Hassan Al-Shehri
Arezki Azzi
Background: Alpha mannosidosis (AM) is a rare lysosomal storage disorder caused by a deficiency in the α-mannosidase enzyme, resulting in impaired glycoprotein metabolism within lysosomes. Enzyme dysfunction is attribute...