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

Gucer, S; Asan, E; Atilla, PERGİN; Tokatli, AYŞEGÜL; Caglar, CELAL

doi:10.1023/b:boli.0000037401.63596.de

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, Scopus)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 27 Sayı: 4
Basım Tarihi: 2004
Doi Numarası: 10.1023/b:boli.0000037401.63596.de
Dergi Adı: Journal of Inherited Metabolic Disease
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Sayfa Sayıları: ss.541-542
Hacettepe Üniversitesi Adresli: Evet

Özet

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.