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Orphanet Journal of Rare Diseases|January 19, 2023
A patient advocating for transparent science in rare disease researchRichard Rui Yang
Orphanet Journal of Rare Diseases|January 16, 2023
Quality of life improvements following one year of setmelanotide in children and adult patients with Bardet-Biedl syndrome: phase 3 trial resultsElizabeth Forsythe, Robert M Haws, Jesús Argente, et al.
Orphanet Journal of Rare Diseases|January 26, 2023
Phenylalanine free infant formula in the dietary management of phenylketonuriaOzlem Yilmaz, Barbara Cochrane, Jo Wildgoose, et al.
Orphanet Journal of Rare Diseases|December 23, 2022
Understanding the challenges, unmet needs, and expectations of mucopolysaccharidoses I, II and VI patients and their caregivers in France: a survey studyNathalie Guffon, Delphine Genevaz, Didier Lacombe, et al.
Orphanet Journal of Rare Diseases|December 5, 2022
Ketogenic diet as a glycine lowering therapy in nonketotic hyperglycinemia and impact on brain glycine levelsEmily Shelkowitz, Russell P Saneto, Walla Al-Hertani, et al.
Orphanet Journal of Rare Diseases|December 6, 2022
Survey on the management of Pompe disease in routine clinical practice in SpainCristina Domínguez-González, Carmina Díaz-Marín, Raúl Juntas-Morales, et al.
Orphanet Journal of Rare Diseases|December 13, 2022
Favourable outcome of acute hepatitis E infection in patients with ANCA-associated vasculitisMarkus Zeisbrich, Sarah Wendel, Stephanie Finzel, et al.
Orphanet Journal of Rare Diseases|November 23, 2019
Biallelic ERBB3 loss-of-function variants are associated with a novel multisystem syndrome without congenital contractureNiu Li, Yufei Xu, Yi Zhang, et al.
Orphanet Journal of Rare Diseases|November 23, 2019
European reference network for rare vascular diseases (VASCERN) consensus statement for the screening and management of patients with pathogenic ACTA2 variantsIngrid M B H van de Laar, Eloisa Arbustini, Bart Loeys, et al.
Orphanet Journal of Rare Diseases|November 22, 2019
Value of muscle magnetic resonance imaging in the differential diagnosis of muscular dystrophies related to the dystrophin-glycoprotein complexZhiying Xie, Zhihao Xie, Meng Yu, et al.
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