載入...

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...

全面介紹

Na minha lista:
書目詳細資料
Main Authors: Hong Li, Lihua Zhao, Rani Singh, J. Nina Ham, Doris O. Fadoju, Lora J.H. Bean, Yan Zhang, Yong Xu, H. Eric Xu, Michael J. Gambello
格式: Artigo
語言:Inglês
出版: Elsevier 2018-12-01
叢編:Molecular Genetics and Metabolism Reports
在線閱讀:http://www.sciencedirect.com/science/article/pii/S2214426918300776
標簽: 添加標簽
沒有標簽, 成為第一個標記此記錄!