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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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書目詳細資料
發表在:Mol Genet Metab Rep
Main Authors: 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.
格式: Artigo
語言:Inglês
出版: Elsevier 2018
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在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC6171159/
https://ncbi.nlm.nih.gov/pubmed/30294546
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2018.09.006
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