Clinical Features of 29 Patients with Hereditary Tyrosinemia I in Western Turkey


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Yazici H., Er E., Canda E., Habif S. , Ucar S. K. , Coker M.

JOURNAL OF PEDIATRIC RESEARCH, cilt.5, ss.1-6, 2018 (ESCI İndekslerine Giren Dergi) identifier

  • Cilt numarası: 5 Konu: 1
  • Basım Tarihi: 2018
  • Doi Numarası: 10.4274/jpr.00710
  • Dergi Adı: JOURNAL OF PEDIATRIC RESEARCH
  • Sayfa Sayısı: ss.1-6

Özet

Aim: The aim of this study was to investigate the long-term outcome of hereditary tyrosinemia Type I (HTI) patients treated with 2-(2-nitro-4-trifluoromethylbenzoyl)-1-1,3-cyclohexanedione (NTBC) to increase knowledge about the clinical outcome in these patients. We want to mention that the patients with HTI have heterogeneous clinic Early diagnosis and early treatment important to prevent the complications.