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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...
Na minha lista:
| Main Authors: | , , , , |
|---|---|
| Formáid: | Artigo |
| Teanga: | Inglês |
| Foilsithe: |
Elsevier
2017-06-01
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| Sraith: | Molecular Genetics and Metabolism Reports |
| Ábhair: | |
| Rochtain Ar Líne: | http://www.sciencedirect.com/science/article/pii/S2214426916301197 |
| Clibeanna: |
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