Genotype and Phenotype Correlations in 417 Children With Congenital Hyperinsulinism

Gelijkaardige items

• Diazoxide-Unresponsive Congenital Hyperinsulinism in Children With Dominant Mutations of the β-Cell Sulfonylurea Receptor SUR1
  door: MacMullen, Courtney M., et al.
  Gepubliceerd in: (2011)
• Clinical characteristics and biochemical mechanisms of congenital hyperinsulinism associated with dominant K(ATP )channel mutations
  door: Pinney, Sara E., et al.
  Gepubliceerd in: (2008)
• A NOVEL KCNJ11 MUTATION ASSOCIATED WITH CONGENITAL HYPERINSULINISM REDUCES THE INTRINSIC OPEN PROBABILITY OF β-CELL ATP-SENSITIVE POTASSIUM CHANNELS
  door: Lin, Yu-Wen, et al.
  Gepubliceerd in: (2005)
• Congenital Hyperinsulinism–Associated ABCC8 Mutations That Cause Defective Trafficking of ATP-Sensitive K(+) Channels: Identification and Rescue
  door: Yan, Fei-Fei, et al.
  Gepubliceerd in: (2007)
• Novel Presentations of Congenital Hyperinsulinism due to Mutations in the MODY genes: HNF1A and HNF4A
  door: Stanescu, Diana E., et al.
  Gepubliceerd in: (2012)