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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Detalles Bibliográficos
Autores principales: García, María Ignacia, de la Parra, Alicia, Arias, Carolina, Arredondo, Miguel, Cabello, Juan Francisco
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2017
Materias:
Research Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5369864/
https://www.ncbi.nlm.nih.gov/pubmed/28377889
http://dx.doi.org/10.1016/j.ymgmr.2017.01.016

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