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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...
Αποθηκεύτηκε σε:
| Τόπος έκδοσης: | Orphanet J Rare Dis |
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| Κύριοι συγγραφείς: | , , , , , , , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
BioMed Central
2017
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| Θέματα: | |
| Διαθέσιμο Online: | 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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