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- W2428853883 abstract "A two months old male affected by alpha-1-AT PiZZ deficiency with severe transient neonatal cholestasis is presented. Two hepatic biopsies were practiced in neonatal period. There was no evidence of PAS positive globules, but an intense univacuolar steatosis and a rossetoid transformation of hepatocytes were observed. Both findings are identical to those found in the histopathologic study of the liver in certain metabolic diseases such as fructosemia and galactosemia. A third biopsy practiced at an age of two years confirmed diagnosis of alpha-1-AT deficit since presence of PAS positive globules was established. It must be pointed out that histopathological findings show great variability among different patients with alpha-1-AT deficit in the neonatal period, as well as the infrequent presence of PAS positive globules in hepatic biopsies of those c during the first months of life." @default.
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- W2428853883 date "1989-02-01" @default.
- W2428853883 modified "2023-09-28" @default.
- W2428853883 title "[Alpha 1-antitrypsin deficiency with histologic expression of metabolic disease of carbohydrates]." @default.
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