Early cirrhosis in a patient with type I citrullinaemia (CTLN1)

Gucer S., Asan E., Atilla P. , Tokatli A., Caglar M.

Journal of Inherited Metabolic Disease, cilt.27, sa.4, ss.541-542, 2004 (SCI Expanded İndekslerine Giren Dergi) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 27 Konu: 4
  • Basım Tarihi: 2004
  • Doi Numarası: 10.1023/b:boli.0000037401.63596.de
  • Dergi Adı: Journal of Inherited Metabolic Disease
  • Sayfa Sayıları: ss.541-542


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.