Evaluation of pre-symptomatic nitisinone treatment on long-term outcomes in Tyrosinemia type 1 patients: a systematic review-Reference-Cited by-同舟云学术

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Evaluation of pre-symptomatic nitisinone treatment on long-term outcomes in Tyrosinemia type 1 patients: a systematic review

Published:2017-09-11 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:

Geppert Julia,Stinton Chris,Freeman Karoline,Fraser Hannah,Clarke Aileen,Johnson Samantha,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/s13023-017-0696-z.pdf

Reference22 articles.

1. Russo PA, Mitchell GA, Tanguay RM. Tyrosinemia: a review. Pediatr Dev Pathol. 2001;4(3):212–21.

2. de Laet C, Dionisi-Vici C, Leonard JV, et al. Recommendations for the management of tyrosinaemia type 1. Orphanet J Rare Dis. 2013;8:8.

3. Angileri F, Bergeron A, Morrow G, et al. Geographical and ethnic distribution of mutations of the Fumarylacetoacetate Hydrolase gene in hereditary Tyrosinemia type 1. JIMD Rep. 2015;19:43–58.

4. Lindblad B, Lindstedt S, Steen G. On the enzymic defects in hereditary tyrosinemia. Proc Natl Acad Sci U S A. 1977;74(10):4641–5.

5. Poudrier J, Lettre F, Scriver CR, et al. Different clinical forms of hereditary tyrosinemia (type I) in patients with identical genotypes. Mol Genet Metab. 1998;64(2):119–25.

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