Newborn screening for Tyrosinemia type 1 using succinylacetone – a systematic review of test accuracy

BACKGROUND: Tyrosinemia type 1 is an autosomal recessive disorder of amino acid metabolism. Without treatment, death in childhood is common. Treatment with nitisinone and dietary restrictions are associated with improved outcomes; some studies suggest better outcomes when treatment begins at an asym...

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Veröffentlicht in:Orphanet J Rare Dis
Hauptverfasser: Stinton, Chris, Geppert, Julia, Freeman, Karoline, Clarke, Aileen, Johnson, Samantha, Fraser, Hannah, Sutcliffe, Paul, Taylor-Phillips, Sian
Format: Artigo
Sprache:Inglês
Veröffentlicht: BioMed Central 2017
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Review
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5343414/
https://ncbi.nlm.nih.gov/pubmed/28274233
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-017-0599-z
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