Monitoring tyrosinaemia type I: Blood spot test for nitisinone (NTBC).

Author
Demirkol, Mubeccel
Gokcay, Gülden Fatma
Sander, Stefanie
Peter, Michael
Das, Anibh M.
Ozer, Isil
Sander, Johannes
Janzen, Nils
Terhardt, Michael
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Abstract
Background: Quantification of nitisinone, 2-(nitro-4-trifluoromethylbenzoyl)1,3-cyclohexanedione (NTBC) has been repeatedly described. Nevertheless monitoring of NTBC has not yet become part of routine therapy surveillance in tyrosinaemia type I (OMIM 276700).
URI
http://hdl.handle.net/20.500.12627/109691
https://doi.org/10.1016/j.cca.2010.09.027
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