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Orphanet Journal of Rare Diseases|July 29, 2022
Natural history of Type 1 spinal muscular atrophy: a retrospective, global, multicenter studyClaude Cances, Dmitry Vlodavets, Giacomo Pietro Comi, et al.
Orphanet Journal of Rare Diseases|July 29, 2022
Health-related quality of life and health literacy in patients with systemic mastocytosis and mast cell activation syndromeTobias Jürgen Schmidt, Julia Sellin, Gerhard J Molderings, et al.
Orphanet Journal of Rare Diseases|July 29, 2022
Use of the bibliometric in rare diseases: taking Wilson disease personallyLin Chen, Zhuoqi Lou, Yangxin Fang, et al.
Orphanet Journal of Rare Diseases|July 29, 2022
Health-related quality of life of X-linked hypophosphatemia in SpainM I Luis Yanes, M Diaz-Curiel, P Peris, et al.
Orphanet Journal of Rare Diseases|May 24, 2023
Hypertension, antihypertensive drugs, and age at onset of Huntington's diseaseYahui Zhu, Mao Li, Jiongming Bai, et al.
Orphanet Journal of Rare Diseases|May 20, 2023
The experience of living with Niemann-Pick type C: a patient and caregiver perspectiveEmma Golden, Raquel van Gool, Mariesa Cay, et al.
Orphanet Journal of Rare Diseases|February 23, 2023
Fat infiltration in the thigh muscles is associated with symptomatic spinal stenosis and reduced physical functioning in adults with achondroplasiaSvein O Fredwall, Jennifer Linge, Olga de Vries, et al.
Orphanet Journal of Rare Diseases|August 21, 2025
Analysis of hydroxocobalamin dosage in patients with CblC deficiencySi Ding, Yuxin Deng, Yi Ding, et al.
Orphanet Journal of Rare Diseases|March 11, 2023
Ocular sequelae of epidermal necrolysis: French national audit of practices, literature review and proposed managementDhyna Thorel, Saskia Ingen-Housz-Oro, Daniel Benaïm, et al.
Orphanet Journal of Rare Diseases|March 22, 2023
GLUT1-DS Italian registry: past, present, and future: a useful tool for rare disordersCostanza Varesio, Valentina De Giorgis, Pierangelo Veggiotti, et al.
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