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

Yazar
Gautschi, Matthias
Mayorandan, Sebene
Meyer, Uta
Segarra, Nuria Garcia
de Baulny, Helene Ogier
van Spronsen, Francjan
Zeman, Jiri
de laet, Corinne
Spiekerkoetter, Ute
Thimm, Eva
Maiorana, Arianna
Dionisi-Vici, Carlo
Moeslinger, Dorothea
Brunner-Krainz, Michaela
Lotz-Havla, Amelie Sophia
de Juan, Jose Angel Cocho
Pico, Maria Luz Couce
Santer, Rene
Scholl-Buergi, Sabine
Mandel, Hanna
Bliksrud, Yngve Thomas
Freisinger, Peter
Aldamiz-Echevarria, Luis Jose
Hochuli, Michel
Endig, Jessica
Jordan, Jens
McKiernan, Patrick
Ernst, Stefanie
Morlot, Susanne
Vogel, Arndt
Sander, Johannes
Das, Anibh Martin
Gokcay, Gülden Fatma
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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.
Bağlantı
http://hdl.handle.net/20.500.12627/78340
https://doi.org/10.1186/s13023-014-0107-7
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