Disorders of Tyrosine Degradation
Author:
Publisher
Springer Berlin Heidelberg
Link
http://link.springer.com/content/pdf/10.1007/978-3-642-55878-8_10
Reference10 articles.
1. van Spronsen FJ, Thomasse Y, Smit GP, Leonard JV, Clayton PT, Fidler V, Berger R, Heymans HS (1994) Hereditary tyrosinemia type I: a new clinical classification with difference in prognosis on dietary treatment. Hepatology 20:1187–1191
2. Bergman AJ, van den Berg IE, Brink W, Poll-The BT, Ploos van Amstel JK, Berger R (1998) Spectrum of mutations in the fumarylacetoacetate hydrolase gene of tyrosinemia type 1 patients in northwestern Europe and Mediterranean countries. Hum Mutat. 12:19–26
3. Holme E, Lindstedt S (1998) Tyrosinaemia type I and NTBC (2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione J Inher Metab Dis 21:507–517
4. Huhn R, Stoermer H, Klingele B, Bausch E, Fois A, Farnetani M, Di Rocco M, Boue J, Kirk JM, Coleman R, Scherer G (1998) Novel and recurrent tyrosine aminotransferase gene mutations in tyrosinemia type II. Hum Genet Mar;102(3):305–313
5. Ruetschi U, Cerone R, Perez-Cerda C, Schiaffino MC, Standing S, Ugarte M, Holme E (2000) Mutations in the 4-hydroxyphenylpyruvate dioxygenase gene (HPD) in patients with tyrosinemia type III. Hum Genet 106:654–662
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