Characterization of the ABCC8 gene mutation and phenotype in patients with congenital hyperinsulinism in western Saudi Arabia

Faculty Medicine Year: 2013
Type of Publication: ZU Hosted Pages:
Authors:
Journal: Saudi Med J 2013; Vol. 34 (10): 1002-1006 smj Volume:
Keywords : Characterization , , ABCC8 gene mutation , phenotype , patients    
Abstract:
Objectives: To understand the genetic etiologies of congenital hyperinsulinism (CHI) in a population of Saudi patients, and to explore genotype-phenotype characteristics. Methods: We retrospectively reviewed a cohort of 11 children wit
   
     
 
       

Author Related Publications

  • Ehab Abdelhamied Abdelsalam, "Clinical and genetic features of permanent neonataldiabetes mellitus", springer, 2015 More
  • Ehab Abdelhamied Abdelsalam, "The Impact of Self Blood Glucose Monitoring and Insulin Regimen onGlycemic Control among Children and Adolescents with Type 1 DiabetesMellitus", omics group, 2015 More
  • Ehab Abdelhamied Abdelsalam, "Impact of urinary growth hormone / insulin –like growth factor -1 on the development of nephropathy in early – onset and long term diabetic children", omics group, 2011 More
  • Ehab Abdelhamied Abdelsalam, "Evaluation of Biomarkers to Differentiate Upper From Lower Urinary Tract Infections in Children", UroToday Internatio, 2011 More
  • Ehab Abdelhamied Abdelsalam, "Hyperosmolar Hyperglycemic State (HHS) in Newly Diagnosed Child with Type 1 Diabetes Mellitus: A Case Report", Turk J Endocrinol Metab, 2013 More

Department Related Publications

  • Seham Fathy Abdelhamid Azab, "Serum trace elements in obese Egyptian children: A case-control study", biomedcentral, 2014 More
  • Seham Fathy Abdelhamid Azab, "IL6-174 G/C gene polymorphism and its relation to serum IL6 in Egyptian children with community-acquired pneumonia", elsevier, 2014 More
  • Seham Fathy Abdelhamid Azab, "Impact of socioeconomic status on severity and outcome of community acquired pneumonia among Egyptian children: A cohort study", biomedcentral, 2014 More
  • Seham Fathy Abdelhamid Azab, "Iron deficiency anemia as a risk factor for cerebrovascular events in early childhood: a case-control study.", springer, 2014 More
  • Seham Fathy Abdelhamid Azab, "Nutritional Biomarkers in Children and Adolescents with Beta-Thalassemia-Major: An Egyptian Center experience", hindawi, 2014 More
Tweet