Year: 2018
Type: article
Study design: Case Report
Abstract: After 6 years of Growth Hormone () therapy, three patients with a defect in minor spliceosome processing leading to an incompletely understood deficit present with excellent auxological response and improvement in the bone mineral density and trabecular bone structure.
Source: EMBO Molecular Medicine
Institutions: Instituto de Salud Carlos III, Spanish Biomedical Research Centre in Physiopathology of Obesity and Nutrition, Hospital Infantil Universitario Niño Jesús, Centro de Investigación Biomédica en Red, Universidad Autónoma de Madrid, Madrid Institute for Advanced Studies, IMDEA Food, University of Helsinki, Universitat Pompeu Fabra, Women's and Children's Hospital, Centre for Biomedical Network Research on Rare Diseases, Hospital del Mar Research Institute, The University of Adelaide, Universidad Complutense de Madrid, Research Institute Hospital 12 de Octubre
Language: English
Subfield: Endocrinology, Diabetes and Metabolism
Field: Medicine
Domain: Health Sciences
Open Access status: gold
Estimated APC paid: $7,990
Awards: G1075404386, G1416398381, Obesidad infantil grave de comienzo precoz: Fundamentos metabólicos, hormonales, genéticos, genómicos y metabolómicos, Obesidad infantil grave de comienzo precoz al diagóstico y tras pérdida ponderal: Fundamentos metabólicos, hormonales, genéticos, genómicos, metabolómicos y de microbiota, G3723525332, G4270186809, G5632189625, G6535972426, G8636635832
OpenAlex ID: W2805114864