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Orphanet Journal of Rare Diseases|June 26, 2020
Best practice guidelines for management of spinal disorders in skeletal dysplasiaKlane K White, Michael B Bober, Tae-Joon Cho, et al.
Orphanet Journal of Rare Diseases|June 18, 2020
Surgical treatment strategies for extra-pelvic intravenous leiomyomatosisHua Li, Jing Xu, Qiaowei Lin, et al.
Orphanet Journal of Rare Diseases|June 5, 2020
Should autism spectrum disorder be considered part of CHARGE syndrome? A cross-sectional study of 46 patientsVéronique Abadie, Priscilla Hamiaux, Stéphanie Ragot, et al.
Orphanet Journal of Rare Diseases|June 7, 2020
Prospective cardiovascular magnetic resonance imaging in adults with Alström syndrome: silent progression of diffuse interstitial fibrosisShanat Baig, Rory Dowd, Nicola C Edwards, et al.
Orphanet Journal of Rare Diseases|June 7, 2020
Improvement in functional gait parameters following corrective thoracolumbar surgery in children affected by Mucopolysaccharidosis 1 (Hurler syndrome)Rajkumar Sundarapandian, Simon Jones, Alexander Broomfield, et al.
Orphanet Journal of Rare Diseases|May 28, 2020
TRUST4RD: tool for reducing uncertainties in the evidence generation for specialised treatments for rare diseasesLieven Annemans, Amr Makady
Orphanet Journal of Rare Diseases|May 28, 2020
Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficienciesThomas Opladen, Eduardo López-Laso, Elisenda Cortès-Saladelafont, et al.
Orphanet Journal of Rare Diseases|May 26, 2020
Frizzled related protein deficiency impairs muscle strength, gait and calpain 3 levelsLeire Casas-Fraile, Frederique M Cornelis, Domiziana Costamagna, et al.
Orphanet Journal of Rare Diseases|May 16, 2020
Critical clinical situations in adult patients with Mucopolysaccharidoses (MPS)Karolina M Stepien, Anait K Gevorkyan, Christian J Hendriksz, et al.
Orphanet Journal of Rare Diseases|August 4, 2022
Clinical characteristics and therapeutic response of immunoglobulin G4-related disease: a retrospective study of 127 Chinese patientsWen An, Zhen Wu, Min Li, et al.
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