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Orphanet Journal of Rare Diseases|January 8, 2026
Assessment of liver and spleen stiffness and hepatic steatosis by transient elastography (Fibroscan®) in type 1 Gaucher disease: a single center case-control cohort studyUmmu Mutlu, Bilger Cavus, Hulya Hacisahinogullari, et al.
Orphanet Journal of Rare Diseases|December 25, 2025
Clinical and genetic analyses of 17 Chinese patients with glycogen storage disease type IXcChengkai Sun, Taozi Du, Yu Xia, et al.
Orphanet Journal of Rare Diseases|December 23, 2025
Left ventricular hypertrabeculation is a novel predictor of life-threatening arrhythmic events in long QT syndrome patientsJing Yang, Kun Li, Fang Liu, et al.
Orphanet Journal of Rare Diseases|November 11, 2025
Cognitive and intellectual functioning in leukodystrophy patients: a systematic reviewWietske H M Grol, Marjo S van der Knaap, Nicole I Wolf, et al.
Orphanet Journal of Rare Diseases|November 1, 2025
Medical expenses and care pathways of patients with Pompe receiving myozyme: an observational study based on the French national healthcare databaseAlicia Le Bras, Pascale De Lonlay, Shahram Attarian, et al.
Orphanet Journal of Rare Diseases|November 4, 2025
Achondroplasia and hypochondroplasia in France: a nationwide epidemiological analysisGenevieve Baujat, Marc-Antoine Hamandjian, Anne-Sophie Jannot, et al.
Orphanet Journal of Rare Diseases|November 4, 2025
Global research landscape of autoimmune nodopathy: a 20-year bibliometric analysis (2005-2025)Mehmet Ertan Temir, Gizem Yavaş Temir
Orphanet Journal of Rare Diseases|July 2, 2025
Nutritional status and metabolic alterations in patients with ataxia-telangiectasiaCristiano do Amaral de Leon, Sérgio Luis Amantea, Renan Augusto Pereira, et al.
Orphanet Journal of Rare Diseases|July 8, 2025
Revised orphanet nomenclature and classification for spina bifida and other spinal dysraphisms (SBoD)Ferdinand Dhombres, Timothée de Saint-Denis, Dominic Thompson, et al.
Orphanet Journal of Rare Diseases|July 16, 2025
Artificial intelligence for diagnosing rare bone diseases: a global survey of healthcare professionalsBehnam Javanmardi, Rebekah L Waikel, Tinatin Tkemaladze, et al.
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