期刊
GROWTH HORMONE & IGF RESEARCH
卷 40, 期 -, 页码 17-19出版社
CHURCHILL LIVINGSTONE
DOI: 10.1016/j.ghir.2018.04.001
关键词
Short stature; GH; IGF-1; ALS; PAPP-A2; PAPP-A
资金
- Spanish Ministry of Health [FIS-PI13/02195, PI16/00485, FIS-PI1302481]
- FEDER
- Centro de Investigacion Biomedica en Red for obesity and nutrition (CIBEROBN) from Instituto de Salud Carlos III, Spain
- Fundacion de Endocrinologia y Nutricion
- Generalitat de Catalunya [2014SRG1468]
- Institucio Catalana de Recerca i Estudis Avancats (ICREA Academia Program)
- Centro de Investigacion Biomedica en Red for rare diseases (CIBERER) from Instituto de Salud Carlos III, Spain
- Spanish Ministry of Economy and Competiveness Programa de Excelencia Maria de Maeztu [MDM-2014-0370]
As a result of our publication of the first patients with short stature due to a mutation in the gene for PAPP-A2 the question, Why did you continue to study these patients when they were not more than 2 SDS below normal? has been proposed surprisingly frequently. We would like to communicate our opinions on why these patients were studied and share the experience on how this process took place. In addition, the choice of treatment is also discussed. We believe that this discovery process is a good example of good clinical practice and international collaboration.
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