Newborn screening for Tyrosinemia type 1 using succinylacetone – a systematic review of test accuracy-Reference-Cited by-同舟云学术

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

Published:2017-03-09 Issue:1 Volume:12 Page:
ISSN:1750-1172
Container-title:Orphanet Journal of Rare Diseases
language:en
Short-container-title:Orphanet J Rare Dis

Author:

Stinton Chris,Geppert Julia,Freeman Karoline,Clarke Aileen,Johnson Samantha,Fraser Hannah,Sutcliffe Paul,Taylor-Phillips Sian

Funder

UK National Screening Committee

Publisher

Springer Science and Business Media LLC

Subject

Pharmacology (medical),Genetics(clinical),General Medicine

Link

http://link.springer.com/content/pdf/10.1186/s13023-017-0599-z.pdf

Reference29 articles.

1. Lindblad B, Lindstedt S, Steen G. Enzymic defects in hereditary Tyrosinemia. Proc Natl Acad Sci U S A. 1977;74(10):4641–5.

2. de Laet C, Dionisi-Vici C, Leonard JV, McKiernan P, Mitchell G, Monti L, de Baulny HO, Pintos-Morell G, Spiekerkoetter U: Recommendations for the management of tyrosinaemia type 1. Orphanet Journal of Rare Diseases 2013, 8.

3. Van Spronsen FJ, Thomasse Y, Smit GPA, Leonard JV, Clayton PT, Fidler V, Berger R, Heymans HSA. Hereditary tyrosinemia type 1: a new clinical classification with difference in prognosis on dietary treatment. Hepatology. 1994;20(5):1187–91.

4. Bartlett DC, Lloyd C, McKiernan PJ, Newsome PN. 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. 2014;37(5):745–52.

5. Larochelle J, Alvarez F, Bussieres J-F, Chevalier I, Dallaire L, Dubois J, Faucher F, Fenyves D, Goodyer P, Grenier A, et al. Effect of nitisinone (NTBC) treatment on the clinical course of hepatorenal tyrosinemia in Quebec. Mol Genet Metab. 2012;107(1–2):49–54.

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