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

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

Journal of Inherited Metabolic Disease, vol.27, no.4, pp.541-542, 2004 (SCI-Expanded)

• Publication Type: Article / Article
• Volume: 27 Issue: 4
• Publication Date: 2004
• Doi Number: 10.1023/b:boli.0000037401.63596.de
• Journal Name: Journal of Inherited Metabolic Disease
• Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
• Page Numbers: pp.541-542
• Hacettepe University Affiliated: Yes

Abstract

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.