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Orphanet Journal of Rare Diseases|June 6, 2018
Clinical characteristics and surgical history of Taiwanese patients with mucopolysaccharidosis type II: data from the hunter outcome survey (HOS)Hsiang-Yu Lin, Chih-Kuang Chuang, Ming-Ren Chen, et al.
Orphanet Journal of Rare Diseases|June 18, 2014
Parkin-mediated ubiquitination of mutant glucocerebrosidase leads to competition with its substrates PARIS and ARTSInna Bendikov-Bar, Debora Rapaport, Sarit Larisch, et al.
Orphanet Journal of Rare Diseases|April 26, 2023
The spectrum of imaging manifestations of Gorham-Stout disease: a novel dynamic contrast-enhanced MR lymphangiographyYuna Lee, Seunghyun Lee, Saebeom Hur, et al.
Orphanet Journal of Rare Diseases|July 1, 2020
European Reference Network for Rare Vascular Diseases (VASCERN) position statement on cerebral screening in adults and children with hereditary haemorrhagic telangiectasia (HHT)Omer F Eker, Edoardo Boccardi, Ulrich Sure, et al.
Orphanet Journal of Rare Diseases|July 1, 2020
Needs assessment study of rare diseases education for nurses and nursing students in PolandDariusz Walkowiak, Jan Domaradzki
Orphanet Journal of Rare Diseases|March 12, 2015
High prevalence of hyposalivation in individuals with neurofibromatosis 1: a case-control studyKarin Soares Cunha, Rafaela Elvira Rozza-de-Menezes, Eloá Borges Luna, et al.
Orphanet Journal of Rare Diseases|September 5, 2012
Clinical characteristics predicting internal neurofibromas in 357 children with neurofibromatosis-1: results from a cross-selectional studyEmilie Sbidian, Smaïl Hadj-Rabia, Vincent M Riccardi, et al.
Orphanet Journal of Rare Diseases|July 19, 2022
Qualitative analysis of patient interviews on the burden of neuronopathic Gaucher disease in JapanYuta Koto, Aya Narita, Shinichi Noto, et al.
Orphanet Journal of Rare Diseases|July 19, 2022
Development and validation of a quality of life measurement scale specific to hereditary hemorrhagic telangiectasia: the QoL-HHTThi Thao Truc Le, Guillaume Martinent, Sophie Dupuis-Girod, et al.
Orphanet Journal of Rare Diseases|July 19, 2022
Parents as informal caregivers of children and adolescents with spinal muscular atrophy: a systematic review of quantitative and qualitative data on the psychosocial situation, caregiver burden, and family needsMaja Brandt, Lene Johannsen, Laura Inhestern, et al.
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