Congenital hyperinsulinism due to mutations in HNF4A and HADH.
Rev Endocr Metab Disord
; 11(3): 185-91, 2010 Sep.
Article
em En
| MEDLINE
| ID: mdl-20931292
ABSTRACT
Mutations in the HADH and HNF4A genes are rare causes of diazoxide responsive congenital hyperinsulinism (CHI). This chapter details the phenotype known to be associated with mutations in these genes. Additionally, the authors give a brief overview of the role of these genes in glucose physiology and the possible mechanisms of CHI in patients with mutations in these genes.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Hiperinsulinismo Congênito
/
Fator 4 Nuclear de Hepatócito
/
3-Hidroxiacil-CoA Desidrogenases
/
Mutação
Tipo de estudo:
Prognostic_studies
Limite:
Humans
/
Newborn
Idioma:
En
Revista:
Rev Endocr Metab Disord
Assunto da revista:
ENDOCRINOLOGIA
/
METABOLISMO
Ano de publicação:
2010
Tipo de documento:
Article
País de afiliação:
Reino Unido