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A case report of two siblings with hypertyrosinemia type 1 presenting with hepatic disease with different onset time and severity
Hereditary tyrosinemia type 1 (HT1) is an autosomal recessive disorder caused by a defect in fumarylacetoacetate hydroxylase (FAH) encoded by the FAH gene. Patients with HT1 disorder present with increased blood tyrosine, succinyl acetoacetate, and succinyl acetone levels, and develop clinical manif...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Elsevier
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9254452/ https://www.ncbi.nlm.nih.gov/pubmed/35800472 http://dx.doi.org/10.1016/j.ymgmr.2022.100892 |