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How useful are the biochemical tests in guiding the diagnostic workup of infantile cholestasis? [PDF]
Al-Hussaini AA, Bashir MS.
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Inherited metabolic disorders: presentation, clinical types, laboratory diagnosis and genetic markers. [PDF]
Ijaz A +6 more
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Chromosomal Instability in Hereditary Tyrosinemia Type I
Pediatric Pathology, 1990Autopsy of a 4-year-old girl with hereditary tyrosinemia type I revealed a hepatocellular carcinoma in addition to cirrhosis and renal tubular dysplasia. Cytogenetic studies performed on a skin fibroblast culture demonstrated greatly increased chromosome breakage, which affected 71% of the cells. This suggests that the development of hepatoma, which is
E, Gilbert-Barness +2 more
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