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Orphanet Journal of Rare Diseases|July 7, 2026
Analysis of homocysteine levels in carriers with MMACHC gene variantsYi Ding, Yuxin Deng, Haijuan Zhi, et al.
Orphanet Journal of Rare Diseases|July 7, 2026
Elamipretide in pediatric Barth syndrome: from heart failure to school returnPascal Amedro, Mathieu Andrianoely, Pauline Gohier, et al.
Orphanet Journal of Rare Diseases|June 30, 2026
Fatigue and pain in children with multiple osteochondromas: a cross-sectional studyIhsane Amajjar, Nienke W Willigenburg, Rob J E M Smeets, et al.
Orphanet Journal of Rare Diseases|July 1, 2026
Preclinical modeling of Loeys-Dietz syndrome: insights into mechanisms and therapyAmira Bousbaa, Ivanna Fedoryshchenko, Ilse Luyckx, et al.
Orphanet Journal of Rare Diseases|July 4, 2026
Increased awareness around an ultra-rare disease can improve diagnosis delays: the French example in primary hyperoxaluriasLara Cabezas, Aurélie De Mul, Laurence Derain, et al.
Orphanet Journal of Rare Diseases|June 19, 2026
Clinical characteristics and a screening tool for VEXAS syndrome: a case-control study from ChinaMenghui Yao, Min Shen, Chengjin Huang, et al.
Orphanet Journal of Rare Diseases|June 25, 2026
Implementation of a medical genomics program for rare diseases in UruguayCamila Simoes, María Fernanda Domínguez, Soledad Rodriguez, et al.
Orphanet Journal of Rare Diseases|June 26, 2026
Proteomics-based approach reveals the involvement of spliceosomal components SF3B and SerpinB9 in dermatofibrosarcoma protuberansYang Xie, Haifeng Li, Tian Liu, et al.
Orphanet Journal of Rare Diseases|June 23, 2026
Transition from pediatric to adult neurology care in Duchenne muscular dystrophy: a national survey of patient and physician experiencesGulcin Akinci, Eray Ontas, Hacer Durmus, et al.
Orphanet Journal of Rare Diseases|June 27, 2026
Management of pregnancy in women with rare multisystemic vascular diseases: a qualitative survey analysisGloria Somalo-Barranco, Alexandra Benachi, Laurence M Boon, et al.
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