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Fatty liver disease and hypertransaminasemia hiding the association of clinically silent Duchenne muscular dystrophy and hereditary fructose intolerance

Author(s): Paolella Giulia | Pisano Pasquale | Albano Raffaele | Cannaviello Lucio | Mauro Carolina | Esposito Gabriella | Vajro Pietro

Journal: The Italian Journal of Pediatrics
ISSN 1720-8424

Volume: 38;
Issue: 1;
Start page: 64;
Date: 2012;
Original page

Keywords: Hypertransaminasemia | Fatty liver | Hereditary fructose intolerance | Muscular dystrophies

Abstract We report a case with the association of well self-compensated hereditary fructose intolerance and still poorly symptomatic Duchenne type muscular dystrophy. This case illustrates the problems of a correct diagnosis in sub-clinical patients presenting with “cryptogenic” hypertransaminasemia.
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