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Early cirrhosis in a patient with type I citrullinaemia (CTLN1).
S S Güçer, E E Aşan, P P Atilla, A A Tokatli and M M Cağlar
J Inherit Metab Dis 27(4):541-2 (2004)
PMID 15334737
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.
DOI:
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DOI:
Version: za2963e q8zaf q8zb8 q8zc0 q8zd6 q8ze7 q8zff q8zg7