Diagnosing Hepatorenal Tyrosinaemia in Europe: Newborn Mass Screening Versus Selective Screening.
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DOI: 10.1007/978-3-319-55780-9_11
Abstract: Hepatorenal tyrosinaemia (HT1) is a serious condition that used to be fatal before the advent of nitisinone (NTBC, Orfadine®) as a therapeutic option. We have recently shown that selective screening is inadequate as initial symptoms… read more here.
Keywords: hepatorenal tyrosinaemia; treatment; mass screening; mass ... See more keywords