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Letter to the Editor: History and clinical implications of PAPP-A2 in human growth: When reflecting on idiopathic short stature leads to a specific and new diagnosis Understanding the concept of low IGF-I availability

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

  1. Spanish Ministry of Health [FIS-PI13/02195, PI16/00485, FIS-PI1302481]
  2. FEDER
  3. Centro de Investigacion Biomedica en Red for obesity and nutrition (CIBEROBN) from Instituto de Salud Carlos III, Spain
  4. Fundacion de Endocrinologia y Nutricion
  5. Generalitat de Catalunya [2014SRG1468]
  6. Institucio Catalana de Recerca i Estudis Avancats (ICREA Academia Program)
  7. Centro de Investigacion Biomedica en Red for rare diseases (CIBERER) from Instituto de Salud Carlos III, Spain
  8. Spanish Ministry of Economy and Competiveness Programa de Excelencia Maria de Maeztu [MDM-2014-0370]

向作者/读者索取更多资源

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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