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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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| Publicado no: | Mol Genet Metab Rep |
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| Main Authors: | , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Elsevier
2017
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5369864/ https://ncbi.nlm.nih.gov/pubmed/28377889 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2017.01.016 |
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