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Orphanet Journal of Rare Diseases|April 17, 2024
Comment on Ombashi, van der Goes, Versnel, Khonsari, van der Molen: guidance to develop a multidisciplinary, international, pediatric registry: a systematic review, Orphanet Journal of Rare diseases, 2023Kristina Klintö, Magnus Becker
Orphanet Journal of Rare Diseases|April 12, 2024
Clinical and genetic study of ABCB4 gene-related cholestatic liver disease in China: children and adultsLili Cao, Xiuxin Ling, Jianguo Yan, et al.
Orphanet Journal of Rare Diseases|May 14, 2024
A 360-degree perspective on adeno-associated virus (AAV)-based gene therapy for haemophilia: Insights from the physician, the nurse and the patientWolfgang Miesbach, Greta Mulders, Daan Breederveld, et al.
Orphanet Journal of Rare Diseases|May 6, 2024
Scoping review of the recommendations and guidance for improving the quality of rare disease registriesJ E Tarride, A Okoh, K Aryal, et al.
Orphanet Journal of Rare Diseases|May 7, 2024
Disease characteristics, effectiveness, and safety of vestronidase alfa for the treatment of patients with mucopolysaccharidosis VII in a novel, longitudinal, multicenter disease monitoring programRoberto Giugliani, Antonio Gonzalez-Meneses, Maurizio Scarpa, et al.
Orphanet Journal of Rare Diseases|April 26, 2024
Clinical manifestation, epidemiology, genetic basis, potential molecular targets, and current treatment of polycystic liver diseaseAmir Ali Mahboobipour, Moein Ala, Javad Safdari Lord, et al.
Orphanet Journal of Rare Diseases|May 2, 2024
An algorithm to identify patients aged 0-3 with rare genetic disordersBryn D Webb, Lisa Y Lau, Despina Tsevdos, et al.
Orphanet Journal of Rare Diseases|April 29, 2024
Epidemiology of autoimmune liver disease in Korea: evidence from a nationwide real-world databaseJihye Lim, Hwa Jung Kim
Orphanet Journal of Rare Diseases|May 3, 2024
Health-related quality of life and influencing factors of patients with paroxysmal nocturnal hemoglobinuria in ChinaHuaxin Yu, Shengnan Duan, Pei Wang, et al.
Orphanet Journal of Rare Diseases|April 12, 2024
Dual rare genetic diseases in five pediatric patients: insights from next-generation diagnostic methodsYupeng Liu, Xue Ma, Zhehui Chen, et al.
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