bibliographicCitation |
Cassiman D, Zeevaert R, Holme E, Kvittingen E, Jaeken J. A novel mutation causing mild, atypical fumarylacetoacetase deficiency (Tyrosinemia type I): a case report. Orphanet Journal of Rare Diseases. 2009 Dec 15;4(1):28. doi: 10.1186/1750-1172-4-28. |