Long-term cognitive functioning in individuals with tyrosinemia type 1 treated with nitisinone and protein-restricted diet

Introduction: Tyrosinemia Type 1 (HT1) is an autosomal recessive disorder caused by a defect in the enzyme fumarylacetoacetate hydroxylase in the tyrosine pathway. Implementation of nitisinone (NTBC) treatment has dramatically improved survival rate of individuals with HT1, yet recent reports on cog...

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Bibliographic Details
Main Authors: María Ignacia García, Alicia de la Parra, Carolina Arias, Miguel Arredondo, Juan Francisco Cabello
Format: Artigo
Language:Inglês
Published: Elsevier 2017-06-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
Tyrosinemia type 1
Nitisinone
NTBC
Tyrosine
Cognitive impairment
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426916301197
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