Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice


Mayorandan S., Meyer U., Gokcay G., Segarra N. G. , de Baulny H. O. , van Spronsen F., et al.

ORPHANET JOURNAL OF RARE DISEASES, cilt.9, 2014 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 9
  • Basım Tarihi: 2014
  • Doi Numarası: 10.1186/s13023-014-0107-7
  • Dergi Adı: ORPHANET JOURNAL OF RARE DISEASES

Özet

Background: Hepatorenal tyrosinaemia (Tyr 1) is a rare inborn error of tyrosine metabolism. Without treatment, patients are at high risk of developing acute liver failure, renal dysfunction and in the long run hepatocellular carcinoma. The aim of our study was to collect cross-sectional data.