[Congenital fructose 1,6 diphosphatase deficiency. Description of a case].
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.
Lupetti
L
L
Cortigiani
L
L
Ughi
C
C
Marchetti
A
A
Ceccarelli
M
M
D015318:Fructose Metabolism, Inborn Errors / Q000175:diagnosis*; D015319:Fructose-1,6-Diphosphatase Deficiency / Q000175:diagnosis* / Q000473:pathology; D006801:Humans; D007223:Infant; D008107:Liver Diseases / Q000473:pathology; D008297:Male
Deficit congenito di fruttosio 1,6 difosfatasi. Descrizione di un caso.