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• W2050657310 abstract "A 3-year-old girl presented with hemolytic anemia, hepatosplenomegaly, ascites, and evidence of decompensated chronic liver disease. Genotypic DNA analysis revealed that the patient was homozygous for a splice site mutation now designated IVS4-1:G>C, expected to destroy completely the functional gene product of ATP7B, the gene responsible for Wilson's disease. We suggest that this severe mutation caused very early liver disease. Wilson's disease should be considered in the differential diagnosis of established liver disease in the preschool-aged child." @default.
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• W2050657310 date "2000-11-01" @default.
• W2050657310 modified "2023-10-16" @default.
• W2050657310 title "Severe hepatic Wilson's disease in preschool-aged children" @default.
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• W2050657310 doi "https://doi.org/10.1067/mpd.2000.108569" @default.
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