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Orphanet Journal of Rare Diseases|August 6, 2021
Prevalence of fibrodysplasia ossificans progressiva (FOP) in the United States: estimate from three treatment centers and a patient organizationRobert J Pignolo, Edward C Hsiao, Genevieve Baujat, et al.
Orphanet Journal of Rare Diseases|August 6, 2021
Hearing characteristics of infantile-onset Pompe disease after early enzyme-replacement therapyChien-Yu Hsueh, Chii-Yuan Huang, Chia-Feng Yang, et al.
Orphanet Journal of Rare Diseases|August 5, 2021
Increased levels of serum interleukin-10 are associated with poor outcome in adult hemophagocytic lymphohistiocytosis patientsYulan Zhou, Fancong Kong, Shixuan Wang, et al.
Orphanet Journal of Rare Diseases|May 23, 2021
Towards an ICF-based self-report questionnaire for people with skeletal dysplasia to study health, functioning, disability and accessibilityHeidi Anttila, Susanna Tallqvist, Minna Muñoz, et al.
Orphanet Journal of Rare Diseases|August 4, 2021
Long-term efficacy and safety of sapropterin in patients who initiated sapropterin at < 4 years of age with phenylketonuria: results of the 3-year extension of the SPARK open-label, multicentre, randomised phase IIIb trialAnia C Muntau, Alberto Burlina, François Eyskens, et al.
Orphanet Journal of Rare Diseases|August 4, 2021
Retrospective study on growth in infants with isolated Robin sequence treated with the Tuebingen Palate PlateCornelia Wiechers, Regina Iffländer, Rieke Gerdes, et al.
Orphanet Journal of Rare Diseases|August 10, 2021
A rare disease patient-reported outcome measure: revision and validation of the German version of the Systemic Sclerosis Quality of Life Questionnaire (SScQoL) using the Rasch modelAgnes Kocher, Mwidimi Ndosi, Kris Denhaerynck, et al.
Orphanet Journal of Rare Diseases|August 12, 2021
Economic burden and health related quality of life of ultra-rare Gaucher disease in ChinaXinye Qi, Jiao Xu, Linghan Shan, et al.
Orphanet Journal of Rare Diseases|August 19, 2021
PhenoDB, GeneMatcher and VariantMatcher, tools for analysis and sharing of sequence dataElizabeth Wohler, Renan Martin, Sean Griffith, et al.
Orphanet Journal of Rare Diseases|May 22, 2021
The mediating effects of quality of life, depression, and generalized anxiety on perceived barriers to employment success for people diagnosed with Neurofibromatosis Type 1Frank D Buono, Matthew E Sprong, Erina Paul, et al.
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