Case Reports
[Congenital fructose 1,6 diphosphatase deficiency. Description of a case]
[Article in
Italian]
- PMID: 2770645
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Case Reports
[Congenital fructose 1,6 diphosphatase deficiency. Description of a case]
[Article in
Italian]
Minerva Pediatr.
1989 Apr.
Abstract
In describing one case of congenital fructose 1,6-diphosphatase deficiency the Authors review the several clinical conditions giving problems of differential diagnosis. For certain diagnosis they underline the importance of liver biopsy, to dose the deficient enzyme directly in the liver tissue.
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