The EuRRECa project as a model for data access and governance policies for rare disease registrie...

Artificial intelligence in medical imaging and its impact on the rare disease community: threats, challenges and opportunities

N Hasani, F Farhadi, MA Morris, M Nikpanah… - PET clinics, 2022 - pet.theclinics.com

Medicine is the art of compassionate care using scientific wisdom and the best available
tools. For a physician, each patient is a unique human being, with particular past history and …

被引用次数：31 相关文章所有 6 个版本

[HTML] frontiersin.org

[HTML][HTML] Development and implementation of the AIDA international registry for patients with Still's disease

A Vitale, F Della Casa, G Lopalco, RM Pereira… - Frontiers in …, 2022 - frontiersin.org

Objective Aim of this paper is to present the design, construction, and modalities of
dissemination of the AutoInflammatory Disease Alliance (AIDA) International Registry for …

被引用次数：16 相关文章所有 27 个版本

[HTML] springer.com

[HTML][HTML] Evidenzbasierte Arzneimittelversorgung bei Seltenen Erkrankungen: die Rolle der Digitalisierung

F Naumann-Winter, T Kaiser, A Behring - Bundesgesundheitsblatt …, 2022 - Springer

Zusammenfassung Bei der Wissensgenerierung im Bereich der Arzneimittelentwicklung für
Menschen mit Seltenen Erkrankungen (SE) sind besondere Schwierigkeiten zu überwinden …

被引用次数：4 相关文章所有 2 个版本

[HTML] bioscientifica.com

[HTML][HTML] The genetic diagnosis of rare endocrine disorders of sex development and maturation: a survey among Endo-ERN centres

L Persani, M Cools, S Ioakim, SF Ahmed… - Endocrine …, 2022 - ec.bioscientifica.com

Differences of sex development and maturation (SDM) represent a heterogeneous puzzle of
rare conditions with a large genetic component whose management and treatment could be …

被引用次数：5 相关文章所有 23 个版本

[HTML] frontiersin.org

[HTML][HTML] Development and implementation of the AIDA International Registry for patients with Periodic Fever, Aphthous stomatitis, Pharyngitis, and cervical Adenitis …

F Della Casa, A Vitale, M Cattalini, F La Torre… - Frontiers in …, 2022 - frontiersin.org

Objective Aim of this paper is to illustrate the methodology, design, and development of the
AutoInflammatory Disease Alliance (AIDA) International Registry dedicated to patients with …

被引用次数：3 相关文章所有 16 个版本

Management of acute adrenal insufficiency-related adverse events in children with congenital adrenal hyperplasia: results of an international survey of specialist …

SR Ali, J Bryce, NP Krone… - Hormone Research in …, 2022 - karger.com

Introduction: There is wide variation in reported rates of acute adrenal insufficiency (AI)-
related adverse events (sick day episodes and adrenal crises) between centres. This study …

被引用次数：3 相关文章所有 6 个版本

[PDF] google.com

[PDF][PDF] Sustainable data governance: A systematic review and a conceptual framework

VH Machado Ribeiro, J Barata, PR da Cunha - 2022 - drive.google.com

We present a systematic literature review based on bibliometric analysis to clarify the role of
data governance in sustainable development. We made a concept-centric review of 35 …

被引用次数：1 相关文章所有 3 个版本