Comparative Study
doi: 10.1007/BF01957696.
Biochemical and clinical observations in four patients with fructose-1,6-diphosphatase deficiency
Affiliations
- PMID: 2347355
- DOI: 10.1007/BF01957696
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Comparative Study
Biochemical and clinical observations in four patients with fructose-1,6-diphosphatase deficiency
Eur J Pediatr.
1990 May.
Abstract
Three boys and one girl suffering from inherited fructose-1,6-diphosphatase (FDPase) deficiency are reported. All four patients had less than 25% residual hepatic FDPase activity. While in two out of three patients the enzyme deficiency was also expressed in leucocytes, one patient had a normal enzyme activity. Remarkably, three patients had pronounced neonatal hyperbilirubinaemia requiring exchange transfusion.
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