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Orphanet Journal of Rare Diseases|July 3, 2025
Childhood to adult transition in youth patients with lysosomal acid lipase deficiency: 43 recommendations from expertsAlvaro Hermida-Ameijeiras, Javier Blasco-Alonso, Juan Luis Carrillo-Linares, et al.
Orphanet Journal of Rare Diseases|July 4, 2025
Assessment of neurological symptoms and associated factors in patients with Wilson's disease in Southwest ChinaLu Zhang, Jieru Peng, Yao Dong, et al.
Orphanet Journal of Rare Diseases|July 2, 2025
A novel TIMM8A mutation in Mohr-Tranebjaerg syndrome without hearing loss and with basal ganglia iron depositionIgnacio Ventura, Francisco Revert-Ros, Fernando Revert, et al.
Orphanet Journal of Rare Diseases|July 2, 2025
Pediatric pulmonary hemorrhage observed in non-vascular and vascular Ehlers-Danlos syndromeRong Yang, Haiming Yang, Chen Shen, et al.
Orphanet Journal of Rare Diseases|July 2, 2025
Clinicopathological-genetic features of neutral lipid storage disease with myopathy from a Chinese neuromuscular centerYi-Ning Luan, Guan-Zhong Shi, Qiu-Xiang Li, et al.
Orphanet Journal of Rare Diseases|June 22, 2025
Dysferlinopathy as cause of long-term hyperCKemia with preserved strengthIkreet Cheema, Jacob Goodwin, Teerin Liewluck, et al.
Orphanet Journal of Rare Diseases|September 24, 2025
Psychometric properties of perceived barriers to PKU treatment inventory in a Brazilian national sampleKatia Irie Teruya, Eduardo Remor, Ida Vanessa Doederlein Schwartz
Orphanet Journal of Rare Diseases|October 10, 2025
Clinical, biochemical and genetic characteristics of patients with argininosuccinate lyase deficiency from a single center cohort in ChinaKaichuang Zhang, Deyun Lu, Lili Liang, et al.
Orphanet Journal of Rare Diseases|October 10, 2025
Neuroretinal structure changes in infantile nephropathic cystinosisLeonie Franziska Keidel, Neringa Jurkute, Benedikt Schworm, et al.
Orphanet Journal of Rare Diseases|September 24, 2025
A visual analysis of research hotspots and trends on macrodactyly between 2005 and 2024Yuan Liu, Zong-You Yang, Chao-Jian Pang, et al.
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