Neurocognitive outcome in tyrosinemia type 1 patients compared to healthy controls

Abstract

BACKGROUND Hereditary Tyrosinemia type 1 (HT1) is a rare metabolic disorder caused by a defect in the enzyme Fumarylacetoacetate Hydrolase. Due to this defect, toxic products accumulate which, in turn, cause liver and kidney dysfunction. Treatment with 2-(2-nitro-4-trifluoromethylbenoyl)-1,3-cyclohexanedione (NTBC) and diet has diminished these problems… (More)
DOI: 10.1186/s13023-016-0472-5

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Cite this paper

@inproceedings{Ginkel2016NeurocognitiveOI, title={Neurocognitive outcome in tyrosinemia type 1 patients compared to healthy controls}, author={Willem G. van Ginkel and Rianne Jahja and Stephan C. J. Huijbregts and A Daly and A. MacDonald and C De laet and David M Cassiman and François Eyskens and Irene M. L. W. K{\"{o}rver-Keularts and Philippe J. Goyens and Patrick J Mckiernan and Francjan J. van Spronsen}, booktitle={Orphanet journal of rare diseases}, year={2016} }