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Revisiting hereditary tyrosinemia Type 1—spectrum of radiological findings
Tyrosinemia is a rare metabolic disease showing autosomal recessive inheritance associated with a deficiency of the enzyme fumarylacetoacetate hydrolase. Absence of this enzyme results in the accumulation of succinylacetone in the tissues which predominantly results in liver injury, renal tubular da...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
The British Institute of Radiology.
2018
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6726168/ https://www.ncbi.nlm.nih.gov/pubmed/31501693 http://dx.doi.org/10.1259/bjrcr.20180001 |