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A novel mutation causing mild, atypical fumarylacetoacetase deficiency (Tyrosinemia type I): a case report
A male patient, born to unrelated Belgian parents, presented at 4 months with epistaxis, haematemesis and haematochezia. On physical examination he presented petechiae and haematomas, and a slightly enlarged liver. Serum transaminases were elevated to 5-10 times upper limit of normal, alkaline phosp...
| Autores principales: | , , , , |
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| Formato: | Texto |
| Lenguaje: | English |
| Publicado: |
BioMed Central
2009
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2802351/ https://www.ncbi.nlm.nih.gov/pubmed/20003495 http://dx.doi.org/10.1186/1750-1172-4-28 |