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Orphanet Journal of Rare Diseases|September 30, 2021
Identification and functional analysis of novel SLC25A19 variants causing thiamine metabolism dysfunction syndrome 4Yuanying Chen, Boliang Fang, Xuyun Hu, et al.
Orphanet Journal of Rare Diseases|March 19, 2022
Coexistence of craniopharyngioma and cranial fibrous dysplasia: a case series of clinicopathological studyYang-Hua Fan, Zhi Li
Orphanet Journal of Rare Diseases|February 22, 2022
Transition from child to adult health care for patients with lysosomal storage diseases in France: current status and priorities-the TENALYS study, a patient perspective surveyDelphine Genevaz, Armelle Arnoux, Catherine Marcel, et al.
Orphanet Journal of Rare Diseases|February 22, 2022
Multidisciplinary management for Peutz-Jeghers syndrome and prevention of vertical transmission to offspring using preimplantation genetic testingXiqiao Xu, Ruifeng Song, Kaiyue Hu, et al.
Orphanet Journal of Rare Diseases|February 22, 2022
Eight months follow-up of corneal nerves and sensitivity after treatment with cenegermin for neurotrophic keratopathyEmilio Pedrotti, Erika Bonacci, Chiara Chierego, et al.
Orphanet Journal of Rare Diseases|April 2, 2022
Expanding the phenotype of TTLL5-associated retinal dystrophy: a case seriesJin Kyun Oh, José G Vargas Del Valle, Jose Ronaldo Lima de Carvalho, et al.
Orphanet Journal of Rare Diseases|February 4, 2022
Atypical skeletal involvement in patients with Erdheim-Chester disease: CT imaging findingsZaizhu Zhang, Wei Yu, Wenmin Guan, et al.
Orphanet Journal of Rare Diseases|April 5, 2022
The experiences of people with haemophilia and their families of gene therapy in a clinical trial setting: regaining control, the Exigency studySimon Fletcher, Kathryn Jenner, Luke Pembroke, et al.
Orphanet Journal of Rare Diseases|April 5, 2022
Refractory serositis in Gorham-Stout syndromeHong Di, Bingqing Zhang, Na Xu, et al.
Orphanet Journal of Rare Diseases|March 25, 2022
A review of the genetic spectrum of hereditary spastic paraplegias, inherited neuropathies and spinal muscular atrophies in AfricansAmokelani C Mahungu, Nomakhosazana Monnakgotla, Melissa Nel, et al.
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