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...
Na minha lista:
發表在: | Mol Genet Metab Rep |
---|---|
Main Authors: | , , , , , , , , , |
格式: | Artigo |
語言: | Inglês |
出版: |
Elsevier
2018
|
主題: | |
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 |
標簽: |
添加標簽
沒有標簽, 成為第一個標記此記錄!
|