First Macedonian child with tyrosinemia type 1 successfully treated with nitisinone and report of a novel mutation in the FAH gene
Introduction. Hereditary tyrosinemia type 1 (HT1) is a severe hereditary metabolic disorder of tyrosine metabolism due to fumarylacetoacetate hydrolase (FAH) deficiency and accumulation of toxic products in tissues. More than 80 mutations in the FAH gene are presently reported on the Human Genome Mu...
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| Autors principals: | , , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Serbian Medical Society
2017-01-01
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| Col·lecció: | Srpski Arhiv za Celokupno Lekarstvo |
| Matèries: | |
| Accés en línia: | http://www.doiserbia.nb.rs/img/doi/0370-8179/2017/0370-81791700084K.pdf |
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