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Orphanet Journal of Rare Diseases|November 14, 2023
The bleeding diathesis in patients with hereditary haemorrhagic telangiectasia is not due to impaired platelet functionAnne Lørup Lyster, Signe Hedengran Biørn, Anette Drøhse Kjeldsen, et al.
Orphanet Journal of Rare Diseases|November 10, 2023
International Undiagnosed Diseases Programs (UDPs): components and outcomesEla Curic, Lisa Ewans, Ryan Pysar, et al.
Orphanet Journal of Rare Diseases|November 11, 2023
Effects of COVID-19 infection in patients with autoimmune pulmonary alveolar proteinosis: a single-center studyChuanxin Duan, Wangji Zhou, Miaoyan Zhang, et al.
Orphanet Journal of Rare Diseases|November 5, 2023
Incidence and survival of transthyretin amyloid cardiomyopathy from a French nationwide study of in- and out-patient databasesThibaud Damy, Guillaume Bourel, Michel Slama, et al.
Orphanet Journal of Rare Diseases|July 23, 2024
The Digital Atlas of Ancient Rare Diseases (DAARD) and its relevance for current researchJulia Gresky, Melina Frotscher, Juliane Dorn, et al.
Orphanet Journal of Rare Diseases|July 20, 2024
Clinical and genetic profiles of patients with hereditary and wild-type transthyretin amyloidosis: the Transthyretin Cardiac Amyloidosis Registry in the state of São Paulo, Brazil (REACT-SP)Fábio Fernandes, Georgina Del Cisne Jadán Luzuriaga, Guilherme Wesley Peixoto da Fonseca, et al.
Orphanet Journal of Rare Diseases|July 15, 2024
Intracranial vasculopathy: an important organ damage in young adult patients with late-onset Pompe diseaseYuying Zhao, Xiaolin Yu, Duoling Li, et al.
Orphanet Journal of Rare Diseases|July 15, 2024
Synthetic datasets for open software development in rare disease researchIbraheem Al-Dhamari, Hammam Abu Attieh, Fabian Prasser
Orphanet Journal of Rare Diseases|July 23, 2024
Clinical and genetic characteristics of Chinese pediatric and adult patients with hereditary spherocytosisChongjun Wu, Yixin Yan, Ting Xiong, et al.
Orphanet Journal of Rare Diseases|July 17, 2024
Consensus-based expert recommendations on the management of MPS IVa and VI in Saudi ArabiaMoeenaldeen AlSayed, Dia Arafa, Huda Al-Khawajha, et al.
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