The first pediatric case of glucagon receptor defect due to biallelic mutations in GCGR is identified by newborn screening of elevated arginine

Glucagon receptor (GCGR) defect (Mahvash disease) is an autosomal recessive hereditary pancreatic neuroendocrine tumor (PNET) syndrome that has only been reported in adults with pancreatic α cell hyperplasia and PNETs. We describe a 7-year-old girl with persistent hyperaminoacidemia, notable for ele...

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Detalles Bibliográficos
Autores principales: Li, Hong, Zhao, Lihua, Singh, Rani, Ham, J. Nina, Fadoju, Doris O., Bean, Lora J.H., Zhang, Yan, Xu, Yong, Xu, H. Eric, Gambello, Michael J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2018
Materias:
Research Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6171159/
https://www.ncbi.nlm.nih.gov/pubmed/30294546
http://dx.doi.org/10.1016/j.ymgmr.2018.09.006

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