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Orphanet Journal of Rare Diseases|April 21, 2022
Gastrointestinal Kohlmeier-Degos disease: a narrative reviewSamantha S Sattler, Cynthia M Magro, Lee Shapiro, et al.
Orphanet Journal of Rare Diseases|March 16, 2022
Legg-Calvé-Perthes disease overviewArmando O Rodríguez-Olivas, Edgar Hernández-Zamora, Elba Reyes-Maldonado
Orphanet Journal of Rare Diseases|April 24, 2022
Clinical overview and outcome of the Stuve-Wiedemann syndrome: a systematic reviewHélène Warnier, Christophe Barrea, Sarah Bethlen, et al.
Orphanet Journal of Rare Diseases|April 24, 2022
The research output of rod-cone dystrophy geneticsLama Jaffal, Zamzam Mrad, Mariam Ibrahim, et al.
Orphanet Journal of Rare Diseases|April 19, 2022
The involvement of rare disease patient organisations in therapeutic innovation across rare paediatric neurological conditions: a narrative reviewChristina Q Nguyen, Kristine Alba-Concepcion, Elizabeth E Palmer, et al.
Orphanet Journal of Rare Diseases|March 22, 2022
Liver transplantation in glycogen storage disease: a single-center experienceZahra Beyzaei, Alireza Shamsaeefar, Kurosh Kazemi, et al.
Orphanet Journal of Rare Diseases|October 12, 2021
Long-term effectiveness of carglumic acid in patients with propionic acidemia (PA) and methylmalonic acidemia (MMA): a randomized clinical trialMajid Alfadhel, Marwan Nashabat, Mohammed Saleh, et al.
Orphanet Journal of Rare Diseases|October 13, 2021
Hepatobiliary disease in XLMTM: a common comorbidity with potential impact on treatment strategiesAdele D'Amico, Antonella Longo, Fabiana Fattori, et al.
Orphanet Journal of Rare Diseases|October 13, 2021
Clinical and ultrasound characteristics of virilizing ovarian tumors in pre- and postmenopausal patients: a single tertiary center experienceMi Zou, Rong Chen, Yahong Wang, et al.
Orphanet Journal of Rare Diseases|October 13, 2021
The impact of demographic and clinical characteristics on the trajectories of health-related quality of life among patients with Fabry diseaseSolrun Sigurdardottir, Birgitte Bjerkely, Trond G Jenssen, et al.
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