title: Early cirrhosis in a patient with type I citrullinaemia (CTLN1).
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.
authors.affiliation: Department of Pediatric Pathology, Hacettepe University Faculty of Medicine, Ankara, Turkey. sgucer@hacettepe.edu.tr
authors.forename: S
authors.initials: S
authors.lastname: Güçer
authors.forename: E
authors.initials: E
authors.lastname: Aşan
authors.forename: P
authors.initials: P
authors.lastname: Atilla
authors.forename: A
authors.initials: A
authors.lastname: Tokatli
authors.forename: M
authors.initials: M
authors.lastname: Cağlar
mesh_terms: D001124:Argininosuccinate Synthase / Q000172:deficiency / Q000235:genetics; D020159:Citrullinemia / Q000150:complications* / Q000235:genetics / Q000473:pathology; D005260:Female; D006720:Homozygote; D006801:Humans; D007223:Infant; D007438:Introns / Q000235:genetics; D008103:Liver Cirrhosis / Q000175:diagnosis* / Q000209:etiology*; D009154:Mutation; D012326:RNA Splicing / Q000235:genetics
chemical_list: D001124:Argininosuccinate Synthase