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APHP Bicêtre Paris Sud le Kremlin Bic... 1 Department of Endocrinology William H... 1 Department of Internal Medicine and P... 1 Department of Laboratory Medicine Cli... 1 Department of Pediatrics Motol Univer... 1 Departments of Medicine and Clinical ... 1 Developmental Endocrinology Research ... 1 Diabetes Center AUF DER BULT Hannover... 1 Division of Endocrine and Metabolic D... 1 Division of Endocrinology Department ... 1 Division of Paediatric Endocrinology ... 1 Dutch Adrenal Network JH Soest the Ne... 1 Erasmus Medical Centre Department of ... 1 Genetics and Genomic Medicine Program... 1 Medizinische Klinik und Poliklinik 4 ... 1 National Centre for Rare Diseases Ist... 1 Office for Rare Conditions Royal Hosp... 1 Pediatric Endocrinology and Inborn Er... 1 Sorbonne Université Inserm Centre de ... 1
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APHP Bicêtre Paris Sud le Kremlin Bic... 1 Department of Endocrinology William H... 1 Department of Internal Medicine and P... 1 Department of Laboratory Medicine Cli... 1 Department of Pediatrics Motol Univer... 1 Departments of Medicine and Clinical ... 1 Developmental Endocrinology Research ... 1 Diabetes Center AUF DER BULT Hannover... 1 Division of Endocrine and Metabolic D... 1 Division of Endocrinology Department ... 1 Division of Paediatric Endocrinology ... 1 Dutch Adrenal Network JH Soest the Ne... 1 Erasmus Medical Centre Department of ... 1 Genetics and Genomic Medicine Program... 1 Medizinische Klinik und Poliklinik 4 ... 1 National Centre for Rare Diseases Ist... 1 Office for Rare Conditions Royal Hosp... 1 Pediatric Endocrinology and Inborn Er... 1 Sorbonne Université Inserm Centre de ... 1
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Open Access Digital Library od 1997-07-01
PubMed
30407922
DOI
10.1530/eje-18-0861
Knihovny.cz E-zdroje
Objective To identify cross-border international registries for rare endocrine conditions that are led from Europe and to understand the extent of engagement with these registries within a network of reference centres (RCs) for rare endocrine conditions. Methods Database search of international registries and a survey of RCs in the European Reference Network for rare endocrine conditions (Endo-ERN) with an overall response rate of 82%. Results Of the 42 conditions with orphacodes currently covered within Endo-ERN, international registries exist for 32 (76%). Of 27 registries identified in the Orphanet and RD-Connect databases, Endo-ERN RCs were aware of 11 (41%). Of 21 registries identified by the RC, RD-Connect and Orphanet did not have a record of 10 (48%). Of the 29 glucose RCs, the awareness and participation rate in an international registry was highest for rare diabetes at 75 and 56% respectively. Of the 37 sex development RCs, the corresponding rates were highest for disorders of sex development at 70 and 52%. Of the 33 adrenal RCs, the rates were highest for adrenocortical tumours at 68 and 43%. Of the 43 pituitary RCs, the rates were highest for pituitary adenomas at 43 and 29%. Of the 31 genetic tumour RCs, the rates were highest for MEN1 at 26 and 9%. For the remaining conditions, awareness and participation in registries was less than 25%. Conclusion Although there is a need to develop new registries for rare endocrine conditions, there is a more immediate need to improve the awareness and participation in existing registries.
- MeSH
- lidé MeSH
- nemoci endokrinního systému * MeSH
- registrace * MeSH
- vzácné nemoci * MeSH
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