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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Autores principales: 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
Formato: Artigo
Lenguaje:Inglês
Publicado: Elsevier 2018-12-01
Colección:Molecular Genetics and Metabolism Reports
Acceso en línea:http://www.sciencedirect.com/science/article/pii/S2214426918300776
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