Biochemical and Clinical Aspects of Hereditary Tyrosinemia Type 1
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Publisher
Springer International Publishing
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http://link.springer.com/content/pdf/10.1007/978-3-319-55780-9_2
Reference72 articles.
1. Allard P, Grenier A, Korson MS, Zytkovicz TH (2004) Newborn screening for hepatorenal tyrosinemia by tandem mass spectrometry: analysis of succinylacetone extracted from dried blood spots. Clin Biochem 37(11):1010–1015. doi:S0009-9120(04)00202-4
2. Angileri F, Bergeron A, Morrow G, Lettre F, Gray G, Hutchin T, Ball S (2015) Geographical and ethnic distribution of mutations of the fumarylacetoacetate hydrolase gene in hereditary tyrosinemia type 1. JIMD Rep 19:45–58. doi: 10.1007/8904_2014_363
3. Applegarth DA, Toone JR, Lowry RB (2000) Incidence of inborn errors of metabolism in British Columbia, 1969–1996. Pediatrics 105(1):e10
4. Bartlett DC, Preece MA, Holme E, Lloyd C, Newsome PN, McKiernan PJ (2013) Plasma succinylacetone is persistently raised after liver transplantation in tyrosinaemia type 1. J Inherit Metab Dis 36(1):15–20. doi: 10.1007/s10545-012-9482-1
5. Bartlett DC, Lloyd C, McKiernan PJ, Newsome PN (2014) Early nitisinone treatment reduces the need for liver transplantation in children with tyrosinaemia type 1 and improves post-transplant renal function. J Inherit Metab Dis 37(5):745–752. doi: 10.1007/s10545-014-9683-x
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