by sabine | May 1, 2022 | Publication
Background EuRR-Bone offers an electronic reporting system (e-REC) that captures the occurrence of rare conditions within reference networks such as ERN BOND and Endo-ERN. Secondary surveys following the reported cases in e-REC collect a brief amount of data for...by sabine | Mar 23, 2022 | Publication
Objective To assess the current medical practice in Europe regarding prenatal dexamethasone (Pdex) treatment of congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency. Design and methods A questionnaire was designed and distributed, including 17...by sabine | Feb 1, 2022 | Publication
Background Parathyroid carcinoma (PC) is an extremely rare malignant endocrine tumour of the parathyroid glands. Due to its rarity, several aspects regarding diagnosis, prognosis, clinical management, recurrence, and tumour-related complications remain poorly...by sabine | Nov 15, 2021 | Publication
Background Rare disease registries are essential tools for improving knowledge of rare conditions, supporting clinical research, facilitating collaboration between healthcare professionals and enabling better patient care. However, the rapid growth of registries has...by sabine | Nov 3, 2021 | Publication
Background Understanding the natural history of rare bone and mineral conditions is essential to improve clinical practice and support the development of new diagnostics and therapies. Patient participation and long-term engagement are key challenges for rare disease...by sabine | May 25, 2021 | Publication
Background Differences or disorders of sex development (DSD) comprise a heterogeneous group of rare conditions affecting sex development. Due to their complexity and rarity, timely diagnosis and coordinated multidisciplinary care are essential to ensure appropriate...