Evaluation of pre-symptomatic nitisinone treatment on long-term outcomes in Tyrosinemia type 1 patients: a systematic review

Evaluation of pre-symptomatic nitisinone treatment on long-term outcomes in Tyrosinemia type 1 patients: a systematic review

Abstract Background Tyrosinemia type 1 (TYR1) is a rare autosomal recessive disorder of amino acid metabolism that is fatal without treatment. With medication (nitisinone) and dietary restrictions outcomes are improved. We conducted a systematic review to investigate if treatment with nitisinone fol...

Full description

Bibliographic Details
Main Authors: Julia Geppert, Chris Stinton, Karoline Freeman, Hannah Fraser, Aileen Clarke, Samantha Johnson, Paul Sutcliffe, Sian Taylor-Phillips
Format: Article
Language:English
Published: BMC 2017-09-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Systematic review
Tyrosinemia
Nitisinone
Treatment
Long-term outcomes
Newborn screening
Online Access:http://link.springer.com/article/10.1186/s13023-017-0696-z

Internet

http://link.springer.com/article/10.1186/s13023-017-0696-z

Similar Items