Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice-Reference-Cited by-同舟云学术

Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice

Published:2014-08-01 Issue:1 Volume:9 Page:
ISSN:1750-1172
Container-title:Orphanet Journal of Rare Diseases
language:en
Short-container-title:Orphanet J Rare Dis

Author:

Mayorandan Sebene,Meyer Uta,Gokcay Gülden,Segarra Nuria Garcia,de Baulny Hélène Ogier,van Spronsen Francjan,Zeman Jiri,de Laet Corinne,Spiekerkoetter Ute,Thimm Eva,Maiorana Arianna,Dionisi-Vici Carlo,Moeslinger Dorothea,Brunner-Krainz Michaela,Lotz-Havla Amelie Sophia,Cocho de Juan José Angel,Couce Pico Maria Luz,Santer René,Scholl-Bürgi Sabine,Mandel Hanna,Bliksrud Yngve Thomas,Freisinger Peter,Aldamiz-Echevarria Luis Jose,Hochuli Michel,Gautschi Matthias,Endig Jessica,Jordan Jens,McKiernan Patrick,Ernst Stefanie,Morlot Susanne,Vogel Arndt,Sander Johannes,Das Anibh Martin

Publisher

Springer Science and Business Media LLC

Subject

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

Link

http://link.springer.com/content/pdf/10.1186/s13023-014-0107-7.pdf

Reference58 articles.

1. Lindblad B, Lindstedt S, Steen G: On the enzymatic defects in hereditary tyrosinemia. Proc Natl Acad Sci USA. 1977, 74: 4641-4645.

2. Chakrapani A, Holme E: Disorders of tyrosine metabolism. Inborn Metabolic diseases. 4th edition. Edited by: Fernandez S, Berghe W. 2006, Springer, Heidelberg, 233-243.

3. Van Spronsen FJ, Bijleveld MA, van Maldegem BT, Wijburg FA: Hepatocellular Carcinoma in Hereditary Tyrosinemia Type I Despite 2-(2 Nitro-4-3-Trifluoro-Methylbenzoyl)-1,3-Cyclohexanedione Treatment. J Pedriatr Gastroenterol Nutr. 2005, 40: 90-93.

4. Weinberg AG, Mize CE, Worthen HG: The occurence of hepatoma in the chronic form of hereditary tyrosinemia. J Pediatr. 1976, 88: 434-438.

5. Thimm E, Richter-Werkle R, Kamp G, Molke B, Herebian D, Klee D, Mayatepek E, Spiekerkoetter U: Neurocognitive outcome in patients with hypertyrosinemia type I after a long-term treatment with NTBC. J Inherit Metab Dis. 2012, 35: 263-268.

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