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Orphanet Journal of Rare Diseases|October 25, 2022
Early embryonic lethality in complex I associated p.L104P Nubpl mutant miceCheng Cheng, James Cleak, Lan Weiss, et al.
Orphanet Journal of Rare Diseases|November 3, 2022
Long-term Prophylaxis with Androgens in the management of Hereditary Angioedema (HAE) in emerging countriesYinshi Guo, Huanping Zhang, He Lai, et al.
Orphanet Journal of Rare Diseases|November 4, 2022
An observational study to investigate the relationship between plasma glucosylsphingosine (lyso-Gb1) concentration and treatment outcomes of patients with Gaucher disease in JapanHiroyuki Ida, Yuko Watanabe, Rieko Sagara, et al.
Orphanet Journal of Rare Diseases|October 14, 2022
HINT1 neuropathy in Lithuania: clinical, genetic, and functional profilingMatilde Malcorps, Silvia Amor-Barris, Birute Burnyte, et al.
Orphanet Journal of Rare Diseases|October 1, 2022
Documenting manifestations and impacts of autosomal recessive spastic ataxia of Charlevoix-Saguenay to develop patient-reported outcomeMarjolaine Tremblay, Laura Girard-Côté, Bernard Brais, et al.
Orphanet Journal of Rare Diseases|October 8, 2022
Rare disease curative care expenditure-financing scheme-health provider-beneficiary group analysis: an empirical study in Sichuan Province, ChinaJia Li, Lian Yang, Yitong Zhang, et al.
Orphanet Journal of Rare Diseases|September 7, 2022
Fibrodysplasia ossificans progressiva in Brazil: challenges and strategies to create assistance and educational networksAlessandro Rozim Zorzi, Patricia R Delai, Henrique L C Rosa, et al.
Orphanet Journal of Rare Diseases|November 4, 2021
Patients' priorities and expectations on an EU registry for rare bone and mineral conditionsMuhammad Kassim Javaid, Marina Mordenti, Manila Boarini, et al.
Orphanet Journal of Rare Diseases|September 29, 2022
Clinical characteristics, healthcare use, and annual costs among patients with dystrophic epidermolysis bullosaJames A Feinstein, Anna L Bruckner, Benjamin Chastek, et al.
Orphanet Journal of Rare Diseases|August 26, 2022
Estimation of hereditary fructose intolerance prevalence in the Chinese populationMeiling Tang, Xiang Chen, Qi Ni, et al.
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