Type 1 tyrosinemia in Finland: a nationwide study.
Linnea ÄäreläPauliina HiltunenTea SoiniNina VuorelaHeini HuhtalaPasi I NevalainenMarkku HeikinheimoLaura KiveläKalle KurppaPublished in: Orphanet journal of rare diseases (2020)
Prognosis of type 1 tyrosinemia has improved in the era of nitisinone, and NBS seems to provide further benefits. Nevertheless, the long-term risk for complications remains, particularly in the case of late diagnosis and/or insufficient nitisinone levels.
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