A novel mutation causing mild, atypical fumarylacetoacetase deficiency (Tyrosinemia type I): a case report
<p>Abstract</p> <p>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...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
BMC
2009-12-01
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| Series: | Orphanet Journal of Rare Diseases |
| Online Access: | http://www.ojrd.com/content/4/1/28 |