by sabine | Apr 1, 2023 | Publication
Objective The European Registries for Rare Endocrine Conditions (EuRRECa, eurreb.eu) includes an e-reporting registry (e-REC) used to perform surveillance of conditions within the European Reference Network (ERN) for rare endocrine conditions (Endo-ERN). The aim of...by sabine | Feb 1, 2023 | Publication
Read publication Overview publication TitleData collection on rare bone and mineral conditions in Europe: The landscape of registries and databasesDateDecember 1st, 2023Issue nameEuropean Journal of Medical GeneticsIssue numberv66.12...by sabine | Aug 1, 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 | Apr 1, 2022 | Publication
Read publication Overview publication TitleThe European registry for rare bone and mineral conditions (EuRR-Bone): results of a survey on osteogenesis imperfecta and fibrous dysplasia McCune-Albright syndromeDateMay 1st, 2022Issue nameBone ReportsIssue numberv16...by sabine | Mar 1, 2022 | Publication
Read publication Overview publication TitleMeeting Report from 2nd ICCBH-ERN BOND Spinal Complications in Children and Adults with Achondroplasia Workshop, Dublin, Ireland, 2nd July 2022DateDecember 1st, 2022Issue nameBoneIssue numberv165...by sabine | Feb 1, 2022 | Publication
Parathyroid carcinoma (PC) is an extremely rare malignant endocrine tumor of the parathyroid glands. Given the extreme rarity of this cancer, many issues regarding its diagnosis, prognosis, clinical management, and tumor-derived complications remain unresolved, and no...