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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Egile Nagusiak:	María Ignacia García, Alicia de la Parra, Carolina Arias, Miguel Arredondo, Juan Francisco Cabello
Formatua:	Artigo
Hizkuntza:	Inglês
Argitaratua:	Elsevier 2017-06-01
Saila:	Molecular Genetics and Metabolism Reports
Gaiak:	Tyrosinemia type 1 Nitisinone NTBC Tyrosine Cognitive impairment
Sarrera elektronikoa:	http://www.sciencedirect.com/science/article/pii/S2214426916301197
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