Journal of Inherited Metabolic Disease · 2004 · 13 citations · 4 references
MedicineInternal MedicinePathologyHepatologyChronic Liver DiseaseCirrhosisHepatobiliary DiseaseHepatobiliary PathologyLiver DiseaseCirrhosis Biochemistry Markers
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.
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The metabolic and molecular bases of inherited disease
Ying-Tsong Chen · Medical Entomology and Zoology · 2001 · 6.9K citations
Sw Brusilow · Medical Entomology and Zoology · 2001 · 347 citations