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Type 1 tyrosinemia in Finland: a nationwide study

BACKGROUND: Introduction of nitisinone and newborn screening (NBS) have transformed the treatment of type 1 tyrosinemia, but the effects of these changes on the long-term outcomes remain obscure. Also, the predictors for later complications, the significance of drug levels and the normalization of l...

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Detalles Bibliográficos
Autores principales: Äärelä, Linnea, Hiltunen, Pauliina, Soini, Tea, Vuorela, Nina, Huhtala, Heini, Nevalainen, Pasi I., Heikinheimo, Markku, Kivelä, Laura, Kurppa, Kalle
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7549233/
https://www.ncbi.nlm.nih.gov/pubmed/33046095
http://dx.doi.org/10.1186/s13023-020-01547-w