New cases of rare bone and mineral conditions reported within the first 18 months of the European registry for rare bone and mineral conditions

by sabine | Jun 1, 2021 | Publication

 Read publication Overview publication TitleNew cases of rare bone and mineral conditions reported within the first 18 months of the European registry for rare bone and mineral conditionsDateMay 1st, 2022Issue nameBone ReportsIssue numberv16...

Supporting international networks through platforms for standardised data collection—the European Registries for Rare Endocrine Conditions (EuRRECa) model

by sabine | May 1, 2021 | Publication

Abstract Rare endocrine pathology is manifested by either a deficiency or excess of one or more hormones. These conditions can be life-threatening and are almost universally associated with long-term morbidity. Understanding the aetiology of these conditions requires...

The Quality Evaluation of Rare Disease Registries—An Assessment of the Essential Features of a Disease Registry

by sabine | Apr 1, 2021 | Publication

Rare disease (RD) registries aim to promote data collection and sharing, and facilitate multidisciplinary collaboration with the overall aim of improving patient care. Recommendations relating to the minimum standards necessary to develop and maintain high quality...

Society for Endocrinology UK Guidance on the initial evaluation of a suspected difference or disorder of sex development (Revised 2021)

by sabine | Mar 1, 2021 | Publication

Abstract It is paramount that any child or adolescent with a suspected difference or disorder of sex development (DSD) is assessed by an experienced clinician with adequate knowledge about the range of conditions associated with DSD and is discussed with the regional...

Patients’ priorities and expectations on an EU registry for rare bone and mineral conditions

by sabine | Feb 1, 2021 | Publication

Abstract Background Understanding the natural history of rare bone and mineral conditions is essential for improving clinical practice and the development of new diagnostics and therapeutics. Recruitment and long-term participation in registries are key challenges for...