Now showing items 1-3 of 3

    • A Case with Laron Syndrome 

      ÖZGEN, İLKER TOLGA; Yesil, Gozde; CESUR, Yaşar; Kutlu, Esra (2019-07-01)
      Laron syndrome (LS) is a rare disorder leading to short stature as a result of growth hormone (GH) insensitivity. It is caused by mutations in GH receptor gene and characterized by post-natal growth retardation, craniofacial ...
    • Pseudohypoparathyroidism Type Ia with Normocalcemia 

      Kutlu, Esra; Yesil, Gozde; CESUR, Yaşar; ÖZGEN, İLKER TOLGA (2019-04-01)
      Pseudohypoparathyroidism (PHP) is a heterogeneous group of disorder with parathormone target organ resistance, characterized by hypocalcemia, hyperphosphatemia and high blood parathormone (PTH). Typical phenotypic symptoms ...
    • The Role of Supportive Treatment in the Management of Hyperammonemia in Neonates and Infants 

      Zeybek, Cigdem Aktuglu; Ataman, Yasemin; CESUR, Yaşar; Karacabey, Burcin Nazli; Demirkol, Demet; Soysal, Elif (2019-01-01)
      Background: The objective of this study is to investigate the efficacy of continuous renal replacement therapy (CRRT), mainly continuous venovenous hemodiafiltration (CVVHDF), and evaluate vasoactive requirements in ...