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...

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Detalhes bibliográficos
Main Authors: Julia Geppert, Chris Stinton, Karoline Freeman, Hannah Fraser, Aileen Clarke, Samantha Johnson, Paul Sutcliffe, Sian Taylor-Phillips
Formato: Artigo
Idioma:Inglês
Publicado em: BMC 2017-09-01
Colecção:Orphanet Journal of Rare Diseases
Assuntos:
Systematic review
Tyrosinemia
Nitisinone
Treatment
Long-term outcomes
Newborn screening
Acesso em linha:http://link.springer.com/article/10.1186/s13023-017-0696-z
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