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Evaluation of pre-symptomatic nitisinone treatment on long-term outcomes in Tyrosinemia type 1 patients: a systematic review
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 following s...
Autores principales: | Geppert, Julia, Stinton, Chris, Freeman, Karoline, Fraser, Hannah, Clarke, Aileen, Johnson, Samantha, Sutcliffe, Paul, Taylor-Phillips, Sian |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2017
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5594482/ https://www.ncbi.nlm.nih.gov/pubmed/28893311 http://dx.doi.org/10.1186/s13023-017-0696-z |
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