Carregant...

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...

Descripció completa

Guardat en:
Dades bibliogràfiques
Autors principals: 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
Format: Artigo
Idioma:Inglês
Publicat: Elsevier 2018-12-01
Col·lecció:Molecular Genetics and Metabolism Reports
Accés en línia:http://www.sciencedirect.com/science/article/pii/S2214426918300776
Etiquetes: Afegir etiqueta
Sense etiquetes, Sigues el primer a etiquetar aquest registre!