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

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

Orphanet journal of rare diseases, cilt.9, ss.107, 2014 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 9
  • Basım Tarihi: 2014
  • Doi Numarası: 10.1186/s13023-014-0107-7
  • Dergi Adı: Orphanet journal of rare diseases
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.107
  • Anahtar Kelimeler: Diet, Hepatocellular carcinoma, Liver transplantation, Newborn screening, NTBC, Psychomotor impairment, Succinylacetone, Therapeutic monitoring, Tyrosine, TANDEM MASS-SPECTROMETRY, DRIED-BLOOD SPOTS, HEREDITARY TYROSINEMIA, LIVER-TRANSPLANTATION, NITISINONE NTBC, TYPE-1, SUCCINYLACETONE, CARDIOMYOPATHY, DIAGNOSIS, PLASMA
  • İstanbul Üniversitesi Adresli: Evet

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.