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Orphanet Journal of Rare Diseases|August 12, 2025
Inherited metabolic disorders: presentation, clinical types, laboratory diagnosis and genetic markersAamir Ijaz, Seyyedha Abbas, Maria Shabbir, et al.
Orphanet Journal of Rare Diseases|August 13, 2025
ECHS1: pathogenic mechanisms, experimental models, and emerging therapeutic strategiesQiang Fu, Rui Qiu, Shang Li, et al.
Orphanet Journal of Rare Diseases|August 10, 2025
Ocular and confocal manifestations of Mainland Chinese with Fabry disease: a cross-sectional controlled studyYao Xu, Yingjie Chen, Jiali Fan, et al.
Orphanet Journal of Rare Diseases|January 31, 2026
Beyond bile acids synthesis: metabolomics profiling highlights extensive metabolic dysregulation and treatment response in CTXMonte A Del Monte, Jennifer Hanson, Penelope E Bonnen
Orphanet Journal of Rare Diseases|February 7, 2026
Unraveling syndrome-driven osteosarcoma: genetic insights and therapeutic frontiersYang Zhou, Wen Wang, Jin Qiu, et al.
Orphanet Journal of Rare Diseases|August 4, 2025
My A-T pack: a qualitative study of the utility, acceptability, design, and content of a family-designed and owned information pack relevant to the lives of children and young people living with ataxia telangiectasiaMunira Khan, Elizabeth Cassidy, Tracey Parkin, et al.
Orphanet Journal of Rare Diseases|August 1, 2025
Identification of NPR2 gene mutations affecting chondrocyte differentiation in short stature through JAK2-STAT5Shuoshuo Wei, Mingming He, Chuanpeng Zhang, et al.
Orphanet Journal of Rare Diseases|July 31, 2025
Comprehensive review on Fanconi anemia: insights into DNA interstrand cross-links, repair pathways, and associated tumorsChenyan Fang, Zhoujun Zhu, Jun Cao, et al.
Orphanet Journal of Rare Diseases|August 1, 2025
Psychometric validation of the Worst Itch Numerical Rating Scale (WI-NRS) and other patient-reported outcome measures for assessing severity and impact of pruritus in patients with primary biliary cholangitisHeather Gelhorn, Brooke M Currie, Donald M Bushnell, et al.
Orphanet Journal of Rare Diseases|June 18, 2025
The difference of variation types between late-onset multiple acyl-CoA dehydrogenase deficiency patients carrying biallelic and single heterozygous variations in ETFDH: a systematic review and meta-analysisHuiqiu Zhang, Jing Ma, Menghan Su, et al.
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