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...

Descripción completa

Detalles Bibliográficos
Autores principales: Cassiman, David, Zeevaert, Renate, Holme, Elisabeth, Kvittingen, Eli-Anne, Jaeken, Jaak
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2009
Materias:
Case Report
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

Internet

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

Ejemplares similares