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...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
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
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2018-12-01
Colecção:Molecular Genetics and Metabolism Reports
Acesso em linha:http://www.sciencedirect.com/science/article/pii/S2214426918300776
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados