All Stories

  1. Inborn errors of metabolism detectable by tandem mass spectrometry in Egypt: The first newborn screening pilot study
  2. Cystinosin deficiency causes podocyte damage and loss associated with increased cell motility
  3. Association of chitotriosidase enzyme activity and genotype with the risk of nephropathy in type 2 diabetes
  4. Molecular screening ofCFTRgene in Egyptian patients with congenital bilateral absence of the vas deferens: a preliminary study
  5. Altered mTOR signalling in nephropathic cystinosis
  6. Lysosomal Storage Disorders in Egyptian Children
  7. Immunomodulatory Effects of Chitotriosidase Enzyme
  8. Clinical utility of chitotriosidase enzyme activity in nephropathic cystinosis
  9. Selective screening for inborn errors of metabolism by tandem mass spectrometry in Egyptian children: A 5year report
  10. Blood spot versus plasma chitotriosidase: A systematic clinical comparison
  11. Mutational Spectrum of the CTNS Gene in Egyptian Patients with Nephropathic Cystinosis
  12. Assessment of respiratory involvement in children with mucoplysaccharidosis using pulmonary function tests