Journal of Inherited Metabolic Disease, cilt.27, sa.4, ss.541-542, 2004 (SCI-Expanded)
A 17-month-old girl with type I classical citrullinaemia (CTLN1) presenting with early cirrhosis and unusual ultrastructural features of the liver is reported. The patient is homozygous for a splicing mutation in intron 15 of the argininosuccinate synthase gene. © SSIEM and Kluwer Academic Publishers.