… 先天性高胰岛素血症(congenital hyperinsulinism, CHI)是一类异质性疾病,是新生儿和婴幼儿
持续性 低血糖的常见原因,与涉及调节胰腺β 细胞分泌胰 岛素的基因突变相关,造成胰岛素的不适当…

… Abstract: Congenital hyperinsulinemia (CHI) is a disease … genetic pedigree of the family,
the possibility of congenital … a patient with congenital hyperinsulinism: a novel approach to …

… Perspective on the genetics and diagnosis of congenital hyperinsulinism disorders [J]. J …
Novel dominant KATP channel mutations in infants with congenital hyperinsulinism: validation …

… Perspective on the genetics and diagnosis of congenital hyperinsulinism disorders[J]. J
Clin … Dominant form of congenital hyperinsulinism maps to HK1 region on 10q[J]. Horm Res …

… .13, 14 The inverse genetic approach based on familial linkage … (NGS), molecular genetic
diagnosis of MD relied on Sanger … disease in HNF1B/MODY5, macrosomia and/or neonatal …

… gene mutations of the 13 children diagnosed as congenital hyperinsulinism(CHI). Methods
… Perspective on the genetics and diagnosis of congenital hyperinsulinism disorders[J]. J Clin …

… [Abstract] Objective To analyze the therapeutic effect and prognosis of pancreatectomy in
12 patients with congenital hyperinsulinism (CHI). Methods Total of 12 patients with CHI, …

… and safety of octreotide treatment in patients with congenital hyperinsulinism(CHI). Methods
… The efficacy, side effects and prognosis of octreotide treatment of congenital hyperinsulinism …

… Perspective on the genetics and diagnosis of congenital hyperinsulinism disorders[J]. J Clin
… Genotype and phenotype correlations in 417 children with congenital hyperinsulinism[J]. J …

… From a genetic perspective, the conditions broadly defined as “diabetes mellitus” can be
classified as either monogenic, including neonatal diabetes mellitus (NDM) and maturity-onset …