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Late clinical presentation of congenital adrenal hyperplasia in older children: findings from national paediatric surveillance

Knowles, RL; Khalid, JM; Oerton, JM; Hindmarsh, PC; Kelnar, CJ; Dezateux, C; (2014) Late clinical presentation of congenital adrenal hyperplasia in older children: findings from national paediatric surveillance. Archives of Disease in Childhood , 99 (1) pp. 30-34. 10.1136/archdischild-2012-303070. Green open access

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Abstract

To describe the clinical presentation and sequelae, including salt-wasting crises of newly-diagnosed congenital adrenal hyperplasia (CAH) in children aged over 1 year in a contemporary population without screening. To appraise the potential benefit of newborn screening for late-presenting CAH.

Type: Article
Title: Late clinical presentation of congenital adrenal hyperplasia in older children: findings from national paediatric surveillance
Identifier: PMID: 24043550
Open access status: An open access version is available from UCL Discovery
DOI: 10.1136/archdischild-2012-303070
Publisher version: http://dx.doi.org/10.1136/archdischild-2012-303070
Language: English
Additional information: This is an Open Access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 3.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/3.0/
Keywords: Congenital Abnorm, Endocrinology, Epidemiology
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health > Genetics and Genomic Medicine Dept
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health > Population, Policy and Practice Dept
URI: https://discovery.ucl.ac.uk/id/eprint/1406286
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