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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...

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Main Authors: Cassiman, David, Zeevaert, Renate, Holme, Elisabeth, Kvittingen, Eli-Anne, Jaeken, Jaak
Format: Artigo
Jezik:Inglês
Izdano: BioMed Central 2009
Teme:
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC2802351/
https://ncbi.nlm.nih.gov/pubmed/20003495
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1750-1172-4-28
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