Congenital hyperinsulinism in two siblings due to the same ABCC8 mutation: the clinical importance of an early diagnosis and treatment

Autor:	Jesus Barreiro Conde, Teresa Rego, Paloma Cabanas Rodriguez, Francisco Sousa Santos, Ana Fernández-Marmiesse, Rebeca Saborido Fiaño, Helder Simoes, Angel Carracedo, Lidia Castro-Feijoo
Rok vydání:	2017
Předmět:	Pediatrics medicine.medical_specialty biology business.industry Mutation (genetic algorithm) Congenital hyperinsulinism biology.protein Medicine business medicine.disease ABCC8
Zdroj:	Endocrine Abstracts.
ISSN:	1479-6848
DOI:	10.1530/endoabs.49.ep725
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_________::6f74d65d3cd18ab88ef942b73ab17098 https://doi.org/10.1530/endoabs.49.ep725 Zobrazit plný text záznamu